Variant report

Variant	esv3404637
Chromosome Location	chr13:91998776-92001324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:91999518-92000073	HepG2	liver:	n/a	chr13:91999839-91999851 chr13:91999797-91999809 chr13:91999677-91999689
2	ARID3A	chr13:92001068-92001460	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:92000636-92005036	K562	blood:	n/a	n/a
4	ARID3A	chr13:91998579-92000364	K562	blood:	n/a	chr13:91999839-91999851 chr13:91999797-91999809 chr13:91999677-91999689
5	ATF2	chr13:91999029-91999593	GM12878	blood:	n/a	n/a
6	ATF2	chr13:92000628-92001774	GM12878	blood:	n/a	n/a
7	ATF2	chr13:92001229-92001770	GM12878	blood:	n/a	n/a
8	ATF2	chr13:92001164-92001738	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr13:92001223-92001727	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr13:92000429-92001663	K562	blood:	n/a	chr13:92001040-92001049 chr13:92000879-92000888 chr13:92000818-92000827
11	ATF3	chr13:91999403-92000393	K562	blood:	n/a	chr13:91999622-91999631
12	ATF3	chr13:92000635-92002101	K562	blood:	n/a	chr13:92001040-92001049 chr13:92000879-92000888 chr13:92000818-92000827
13	BACH1	chr13:92000597-92001724	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr13:91998969-92000215	K562	blood:	n/a	n/a
15	BACH1	chr13:92000500-92004941	K562	blood:	n/a	n/a
16	BACH1	chr13:91999126-91999955	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr13:92001187-92001475	GM12878	blood:	n/a	n/a
18	BCL11A	chr13:92001182-92001476	GM12878	blood:	n/a	chr13:92001320-92001333 chr13:92001319-92001328
19	BCL3	chr13:92001159-92001639	A549	lung:	n/a	chr13:92001475-92001484 chr13:92001320-92001333 chr13:92001319-92001328
20	BCL3	chr13:91999499-92000289	GM12878	blood:	n/a	chr13:91999970-91999979 chr13:91999772-91999785 chr13:91999759-91999772 chr13:91999967-91999976 chr13:91999968-91999981 chr13:91999967-91999980 chr13:92000044-92000057 chr13:91999923-91999936
21	BCL3	chr13:92000412-92001997	K562	blood:	n/a	chr13:92001154-92001163 chr13:92000668-92000681 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92000666-92000675 chr13:92001475-92001484 chr13:92000669-92000678 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328 chr13:92000667-92000680 chr13:92000672-92000681
22	BCL3	chr13:92000688-92001548	GM12878	blood:	n/a	chr13:92001154-92001163 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92001475-92001484 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328
23	BCL3	chr13:92000752-92001703	K562	blood:	n/a	chr13:92001154-92001163 chr13:92001475-92001484 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328
24	BCLAF1	chr13:91998964-92000058	GM12878	blood:	n/a	chr13:91999970-91999979 chr13:91999772-91999785 chr13:91999759-91999772 chr13:91999967-91999976 chr13:91999968-91999981 chr13:91999967-91999980 chr13:92000044-92000057 chr13:91999923-91999936
25	BCLAF1	chr13:91998654-92000393	K562	blood:	n/a	chr13:91999970-91999979 chr13:91999772-91999785 chr13:91999759-91999772 chr13:91999967-91999976 chr13:91999968-91999981 chr13:91999967-91999980 chr13:92000044-92000057 chr13:91999923-91999936
26	BCLAF1	chr13:91999006-91999781	GM12878	blood:	n/a	chr13:91999759-91999772
27	BCLAF1	chr13:92000584-92001657	GM12878	blood:	n/a	chr13:92001154-92001163 chr13:92000668-92000681 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92000666-92000675 chr13:92001475-92001484 chr13:92000669-92000678 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328 chr13:92000667-92000680 chr13:92000672-92000681
28	BCLAF1	chr13:92000442-92002774	K562	blood:	n/a	chr13:92001154-92001163 chr13:92000668-92000681 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92000666-92000675 chr13:92001475-92001484 chr13:92000669-92000678 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328 chr13:92000667-92000680 chr13:92000672-92000681
29	BCLAF1	chr13:92000625-92001963	GM12878	blood:	n/a	chr13:92001154-92001163 chr13:92000668-92000681 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92000666-92000675 chr13:92001475-92001484 chr13:92000669-92000678 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328 chr13:92000667-92000680 chr13:92000672-92000681
30	BHLHE40	chr13:91999068-92000134	GM12878	blood:	n/a	chr13:91999964-91999980 chr13:91999763-91999779 chr13:91999766-91999782
31	BHLHE40	chr13:92000613-92001666	GM12878	blood:	n/a	chr13:92000668-92000684
32	BHLHE40	chr13:91999474-91999928	HepG2	liver:	n/a	chr13:91999763-91999779 chr13:91999766-91999782
33	BHLHE40	chr13:92000754-92001720	HepG2	liver:	n/a	n/a
34	BHLHE40	chr13:91998873-92004913	K562	blood:	n/a	chr13:91999964-91999980 chr13:92000668-92000684 chr13:91999763-91999779 chr13:91999766-91999782
35	BRCA1	chr13:92000106-92000185	GM12878	blood:	n/a	n/a
36	BRCA1	chr13:91999757-91999760	GM12878	blood:	n/a	n/a
37	BRCA1	chr13:91999954-91999999	HepG2	liver:	n/a	n/a
38	BRCA1	chr13:92001183-92001426	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr13:91999795-91999997	Hela-S3	cervix:	n/a	n/a
40	CBX3	chr13:92001182-92004862	K562	blood:	n/a	chr13:92001776-92001787 chr13:92003539-92003550
41	CBX3	chr13:91998805-92000374	K562	blood:	n/a	n/a
42	CBX3	chr13:91998800-92000165	K562	blood:	n/a	n/a
43	CBX3	chr13:92000620-92002019	K562	blood:	n/a	chr13:92001776-92001787
44	CCNT2	chr13:91999216-92001980	K562	blood:	n/a	chr13:92000025-92000034 chr13:92001155-92001164 chr13:92001601-92001610 chr13:92001181-92001190
45	CEBPB	chr13:91999957-92000203	K562	blood:	n/a	n/a
46	CEBPB	chr13:91999629-92000092	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr13:92000953-92011168	K562	blood:	n/a	chr13:92004431-92004442
48	CEBPB	chr13:92000506-92004600	K562	blood:	n/a	chr13:92004431-92004442
49	CEBPB	chr13:91998543-91999640	K562	blood:	n/a	n/a
50	CEBPB	chr13:92001236-92001464	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:92000673-92000723	NHBE	bronchial:	n/a
2	chr13:92000673-92000723	NHBE	bronchial:	n/a
3	chr13:92000673-92000723	HIPEpiC	eye:	n/a
4	chr13:92000225-92000275	NHBE	bronchial:	n/a
5	chr13:92000673-92000723	AG10803	skin:	n/a
6	chr13:92000673-92000723	HepG2	liver:	n/a
7	chr13:91999555-91999605	PANC-1	pancreas:	n/a
8	chr13:92000673-92000723	BJ	skin:	n/a
9	chr13:92000673-92000723	HCM	heart:	n/a
10	chr13:92000667-92000717	PFSK-1	brain:	n/a
11	chr13:92000113-92000163	HRE	kidney:	n/a
12	chr13:92000225-92000275	AG09309	skin:	n/a
13	chr13:92000113-92000163	AoSMC	blood vessel:	n/a
14	chr13:92000225-92000275	HPAEpiC	pulmonary alveolar:	n/a
15	chr13:92000225-92000275	IMR90	lung:	fetal
16	chr13:91999555-91999605	HAEpiC	amniotic membrane:	n/a
17	chr13:91999862-91999912	NH-A	brain:	n/a
18	chr13:92000667-92000717	Hela-S3	cervix:	n/a
19	chr13:92000113-92000163	IMR90	lung:	fetal
20	chr13:92000667-92000717	SAEC	small airway:	n/a
21	chr13:91999555-91999605	BJ	skin:	n/a
22	chr13:91999555-91999605	AG09309	skin:	n/a
23	chr13:91999555-91999605	HUVEC	blood vessel:	n/a
24	chr13:91999862-91999912	AG09319	gingival:	n/a
25	chr13:91999862-91999912	NHDF-neo	bronchial:	n/a
26	chr13:92000667-92000717	MCF10A-Er-Src	breast:	n/a
27	chr13:92000113-92000163	AG04450	lung:	fetal
28	chr13:92000673-92000723	BE2_C	brain:	n/a
29	chr13:92000673-92000723	AG09319	gingival:	n/a
30	chr13:91999408-91999458	Hela-S3	cervix:	n/a
31	chr13:91999408-91999458	PFSK-1	brain:	n/a
32	chr13:92000673-92000723	SKMC	muscle:	n/a
33	chr13:92000667-92000717	NHDF-neo	bronchial:	n/a
34	chr13:92000113-92000163	NT2-D1	testis:	n/a
35	chr13:92000113-92000163	SK-N-SH_RA	brain:	n/a
36	chr13:91999555-91999605	PrEC	prostate:	n/a
37	chr13:92000673-92000723	MCF-7	breast:	n/a
38	chr13:91999862-91999912	K562	blood:	n/a
39	chr13:91999408-91999458	HIPEpiC	eye:	n/a
40	chr13:91999862-91999912	HPAEpiC	pulmonary alveolar:	n/a
41	chr13:91999555-91999605	HMEC	breast:	n/a
42	chr13:92000225-92000275	Hepatocyte	liver:	n/a
43	chr13:92000113-92000163	U87	brain:	n/a
44	chr13:92000673-92000723	K562	blood:	n/a
45	chr13:92000113-92000163	HUVEC	blood vessel:	n/a
46	chr13:91999408-91999458	BE2_C	brain:	n/a
47	chr13:92000225-92000275	PANC-1	pancreas:	n/a
48	chr13:92000225-92000275	Hela-S3	cervix:	n/a
49	chr13:92000225-92000275	HRCEpiC	kidney:	n/a
50	chr13:91999862-91999912	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:91922956..91924872-chr13:91999191..92001609,2	K562	blood:
2	chr11:65190192..65192335-chr13:91999791..92002488,2	K562	blood:
3	chr1:78468848..78471469-chr13:91999787..92002475,2	K562	blood:
4	chr13:92000244..92002396-chr3:195806622..195808883,2	K562	blood:
5	chr13:91999824..92001564-chr22:17082538..17085283,2	K562	blood:
6	chr13:91999561..92000380-chr5:10563826..10564497,2	NB4	blood:
7	chr13:92001133..92002653-chr19:59054469..59057228,2	K562	blood:
8	chr13:91996769..92000031-chr13:92330723..92334670,4	K562	blood:
9	chr13:91999600..92001415-chr13:95232810..95234468,2	K562	blood:
10	chr1:167905256..167905963-chr13:91999310..92000299,2	Hela-S3	cervix:
11	chr13:92000503..92002491-chr5:137802235..137804530,2	K562	blood:
12	chr13:92000384..92001311-chr14:75745218..75745970,2	Hela-S3	cervix:
13	chr13:92000407..92002112-chr3:5017943..5020563,2	K562	blood:
14	chr1:33004093..33007091-chr13:91999311..92002195,5	K562	blood:
15	chr13:91998254..92001076-chr22:22898499..22901171,2	K562	blood:
16	chr13:92001207..92003151-chr15:65588208..65589789,2	K562	blood:
17	chr13:91999220..92000207-chr19:59055377..59055970,2	HCT-116	colon:
18	chr13:91998703..91999501-chr2:70314810..70315727,2	Hela-S3	cervix:
19	chr13:45910919..45912639-chr13:91999905..92002237,2	K562	blood:
20	chr13:92000564..92001131-chr6:31509453..31510104,2	Hela-S3	cervix:
21	chr1:33004072..33007091-chr13:91999311..92001675,4	K562	blood:
22	chr13:91999993..92001632-chr2:85765128..85766944,2	K562	blood:
23	chr13:91999526..92000349-chr19:23432834..23433455,2	NB4	blood:
24	chr13:91999673..92001318-chr4:100870740..100872493,2	K562	blood:
25	chr13:91998776..92000555-chr13:92831916..92834550,2	K562	blood:
26	chr13:92000031..92002100-chr13:111364097..111366110,2	K562	blood:
27	chr1:192777682..192778234-chr13:92000781..92001546,2	HCT-116	colon:
28	chr13:91998892..92001087-chrX:152952239..152954221,2	K562	blood:
29	chr13:92000043..92002771-chr9:133971829..133974734,2	K562	blood:
30	chr1:33815096..33815763-chr13:92000566..92001402,2	Hela-S3	cervix:
31	chr13:92000736..92001706-chr15:45879106..45879976,2	Hela-S3	cervix:
32	chr13:91999380..92000118-chr9:4679003..4679675,2	NB4	blood:
33	chr13:92001216..92001980-chr16:31191381..31192319,2	Hela-S3	cervix:
34	chr12:49656589..49659420-chr13:91999028..92001178,2	K562	blood:
35	chr13:91999950..92001498-chr6:27113724..27116525,2	K562	blood:
36	chr13:91998294..91999880-chr13:92024685..92027354,2	MCF-7	breast:
37	chr12:49350261..49351259-chr13:92000364..92001295,2	Hela-S3	cervix:
38	chr13:91999405..92003025-chr22:23522118..23524074,3	K562	blood:
39	chr13:91999905..92002821-chr22:19420290..19421943,2	K562	blood:
40	chr13:92001025..92001805-chr13:92009322..92010182,2	K562	blood:
41	chr13:91999607..92001112-chr6:33239163..33241434,2	K562	blood:
42	chr13:91999520..92000389-chr2:47403088..47403880,2	Hela-S3	cervix:
43	chr13:91998997..92001437-chr21:34913809..34915620,2	K562	blood:
44	chr13:91998254..92002103-chr22:22898499..22902488,4	K562	blood:
45	chr13:91996642..91999334-chr13:92113373..92115968,2	K562	blood:
46	chr13:92000589..92001277-chr19:10491196..10491852,2	NB4	blood:
47	chr11:65686358..65687859-chr13:91999900..92001660,2	K562	blood:
48	chr13:92000785..92001327-chr20:3869642..3870361,2	Hela-S3	cervix:
49	chr13:91999624..92000352-chr19:40596463..40597085,2	Hela-S3	cervix:
50	chr13:91899592..91901099-chr13:91998004..91999669,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-1	chr13:92000074-92000213	NR_027349
2	lnc-GPC5-1	chr13:92000074-92000213	NONHSAT034665
3	lnc-GPC5-1	chr13:92000074-92000213	ENSG00000215417
4	lnc-GPC5-1	chr13:92000196-92000213	ENSG00000215417.5
5	lnc-GPC5-1	chr13:92000074-92000213	ENSG00000215417.5

Variant related genes	Relation type
MIR17HG	TF binding region
MIR17HG	CpG island
ENSG00000105397	chromatin interactions
ENSG00000260170	chromatin interactions
ENSG00000126878	chromatin interactions
ENSG00000198563	chromatin interactions
ENSG00000162616	chromatin interactions
ENSG00000130726	chromatin interactions
ENSG00000196081	chromatin interactions
ENSG00000130821	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000106993	chromatin interactions
ENSG00000197782	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000160062	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000272822	chromatin interactions
ENSG00000179818	chromatin interactions
ENSG00000264910	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000269749	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000104164	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000125779	chromatin interactions
ENSG00000116741	chromatin interactions
ENSG00000164236	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000159131	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000134287	chromatin interactions
ENSG00000159140	chromatin interactions
ENSG00000273061	chromatin interactions
ENSG00000269296	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000126882	chromatin interactions
ENSG00000134686	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000199477	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000229287	chromatin interactions
ENSG00000141012	chromatin interactions
ENSG00000130822	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000214178	chromatin interactions
ENSG00000100181	chromatin interactions
ENSG00000088451	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565761030	chr13:91998788-91998789	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs543245811	chr13:91998795-91998796	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs534844754	chr13:91998854-91998855	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs542040775	chr13:91998860-91998861	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs183035204	chr13:91998868-91998869	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs371447282	chr13:91998889-91998890	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs75099365	chr13:91998926-91998927	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs542666370	chr13:91998968-91998969	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs114567303	chr13:91998970-91998971	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs143038340	chr13:91999009-91999010	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs559934987	chr13:91999047-91999048	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs536361320	chr13:91999103-91999104	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs187753073	chr13:91999199-91999200	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs555950109	chr13:91999256-91999257	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs147762468	chr13:91999278-91999279	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs117310130	chr13:91999286-91999287	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs565576870	chr13:91999369-91999370	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs141264822	chr13:91999407-91999408	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
19	rs543402097	chr13:91999420-91999421	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
20	rs563288637	chr13:91999430-91999431	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
21	rs528955173	chr13:91999482-91999483	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
22	rs1888138	chr13:91999496-91999497	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559432504	chr13:91999535-91999536	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
24	rs373611003	chr13:91999539-91999540	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
25	rs193257935	chr13:91999556-91999557	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
26	rs146956500	chr13:91999569-91999570	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
27	rs551209323	chr13:91999572-91999573	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
28	rs73600083	chr13:91999579-91999580	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
29	rs528673673	chr13:91999595-91999596	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
30	rs559855868	chr13:91999632-91999633	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
31	rs531979817	chr13:91999641-91999642	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
32	rs545426032	chr13:91999683-91999684	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
33	rs550524370	chr13:91999695-91999696	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
34	rs540803694	chr13:91999702-91999703	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
35	rs2351704	chr13:91999716-91999717	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536685609	chr13:91999758-91999759	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
37	rs576468350	chr13:91999965-91999966	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
38	rs553184883	chr13:91999974-91999975	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
39	rs138151712	chr13:92000026-92000027	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	44 gene(s)	Overlapped CNVs	n/a
40	rs375393025	chr13:92000042-92000043	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
41	rs539191028	chr13:92000051-92000052	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	47 gene(s)	Overlapped CNVs	n/a
42	rs559204702	chr13:92000118-92000119	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	Overlapped CNVs	n/a
43	rs575976100	chr13:92000164-92000165	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	45 gene(s)	Overlapped CNVs	n/a
44	rs544943770	chr13:92000293-92000294	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	44 gene(s)	Overlapped CNVs	n/a
45	rs555272991	chr13:92000348-92000349	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
46	rs573539750	chr13:92000380-92000381	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
47	rs542647982	chr13:92000408-92000409	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
48	rs10630963	chr13:92000420-92000421	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
49	rs35104402	chr13:92000421-92000422	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
50	rs559179670	chr13:92000550-92000551	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91993800-91998800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:91994600-91999200	Weak transcription	Stomach Mucosa	stomach
3	chr13:91997600-91998800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr13:91997800-91998800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:91998000-91999600	Flanking Active TSS	GM12878-XiMat	blood
6	chr13:91998400-91998800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:91998400-91999000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:91998400-91999000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr13:91998600-91998800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr13:91998600-91998800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr13:91998600-91999000	Enhancers	Primary hematopoietic stem cells	blood
12	chr13:91998600-91999200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr13:91998600-91999600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr13:91998600-91999600	Flanking Active TSS	Dnd41	blood
15	chr13:91998600-91999800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:91998800-91999000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:91998800-91999000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr13:91998800-91999000	Enhancers	Primary T cells from cord blood	blood
19	chr13:91998800-91999000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr13:91998800-91999000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr13:91998800-91999000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr13:91998800-91999000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr13:91998800-91999000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr13:91998800-91999000	Enhancers	Adipose Nuclei	Adipose
25	chr13:91998800-91999000	Enhancers	Brain Anterior Caudate	brain
26	chr13:91998800-91999000	Enhancers	Brain Cingulate Gyrus	brain
27	chr13:91998800-91999000	Enhancers	Brain Hippocampus Middle	brain
28	chr13:91998800-91999000	Enhancers	Fetal Intestine Large	intestine
29	chr13:91998800-91999000	Enhancers	Fetal Intestine Small	intestine
30	chr13:91998800-91999000	Enhancers	Thymus	Thymus
31	chr13:91998800-91999000	Bivalent Enhancer	HUVEC	blood vessel
32	chr13:91998800-91999200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
33	chr13:91998800-91999200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr13:91998800-91999200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr13:91998800-91999200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:91998800-91999200	Active TSS	Primary B cells from cord blood	blood
37	chr13:91998800-91999200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr13:91998800-91999200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr13:91998800-91999200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr13:91998800-91999600	Flanking Active TSS	K562	blood
41	chr13:91998800-91999800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr13:91998800-91999800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:91999000-91999200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:91999000-91999200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr13:91999000-91999200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr13:91999000-91999200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr13:91999000-91999200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
48	chr13:91999000-91999200	Enhancers	Primary B cells from peripheral blood	blood
49	chr13:91999000-91999200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr13:91999000-91999200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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