Variant report

Variant	esv1801178
Chromosome Location	chr13:91999737-92001472
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	chr13:91998579-92000364	K562	blood:	n/a	chr13:91999839-91999851 chr13:91999797-91999809 chr13:91999677-91999689
4	ARID3A	chr13:92000636-92005036	K562	blood:	n/a	n/a
5	ATF2	chr13:92001223-92001727	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr13:92001229-92001770	GM12878	blood:	n/a	n/a
7	ATF2	chr13:92001164-92001738	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr13:92000628-92001774	GM12878	blood:	n/a	n/a
9	ATF3	chr13:92000635-92002101	K562	blood:	n/a	chr13:92001040-92001049 chr13:92000879-92000888 chr13:92000818-92000827
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	BACH1	chr13:92000500-92004941	K562	blood:	n/a	n/a
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	chr13:91999126-91999955	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr13:92001187-92001475	GM12878	blood:	n/a	n/a
17	BCL11A	chr13:92001182-92001476	GM12878	blood:	n/a	chr13:92001320-92001333 chr13:92001319-92001328
18	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
19	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
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	chr13:92001159-92001639	A549	lung:	n/a	chr13:92001475-92001484 chr13:92001320-92001333 chr13:92001319-92001328
23	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
24	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
25	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
26	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
27	BCLAF1	chr13:91999006-91999781	GM12878	blood:	n/a	chr13:91999759-91999772
28	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
29	BHLHE40	chr13:91999474-91999928	HepG2	liver:	n/a	chr13:91999763-91999779 chr13:91999766-91999782
30	BHLHE40	chr13:91998873-92004913	K562	blood:	n/a	chr13:91999964-91999980 chr13:92000668-92000684 chr13:91999763-91999779 chr13:91999766-91999782
31	BHLHE40	chr13:92000613-92001666	GM12878	blood:	n/a	chr13:92000668-92000684
32	BHLHE40	chr13:92000754-92001720	HepG2	liver:	n/a	n/a
33	BHLHE40	chr13:91999068-92000134	GM12878	blood:	n/a	chr13:91999964-91999980 chr13:91999763-91999779 chr13:91999766-91999782
34	BRCA1	chr13:92001183-92001426	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr13:92001396-92001596	GM12878	blood:	n/a	n/a
36	BRCA1	chr13:91999795-91999997	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr13:92000106-92000185	GM12878	blood:	n/a	n/a
38	BRCA1	chr13:91999954-91999999	HepG2	liver:	n/a	n/a
39	BRCA1	chr13:91999757-91999760	GM12878	blood:	n/a	n/a
40	CBX3	chr13:91998800-92000165	K562	blood:	n/a	n/a
41	CBX3	chr13:92001182-92004862	K562	blood:	n/a	chr13:92001776-92001787 chr13:92003539-92003550
42	CBX3	chr13:92000620-92002019	K562	blood:	n/a	chr13:92001776-92001787
43	CBX3	chr13:91998805-92000374	K562	blood:	n/a	n/a
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	chr13:92000953-92011168	K562	blood:	n/a	chr13:92004431-92004442
47	CEBPB	chr13:92001181-92002084	GM12878	blood:	n/a	n/a
48	CEBPB	chr13:91999629-92000092	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr13:92001236-92001464	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr13:92000506-92004600	K562	blood:	n/a	chr13:92004431-92004442

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:92001440-92001490	H1-hESC	embryonic stem cell:	embryo
2	chr13:92001440-92001490	H1-hESC	embryonic stem cell:	embryo
3	chr13:92000673-92000723	AG04450	lung:	fetal
4	chr13:92000225-92000275	AG10803	skin:	n/a
5	chr13:92000673-92000723	HepG2	liver:	n/a
6	chr13:91999862-91999912	AG04450	lung:	fetal
7	chr13:92000667-92000717	AG09319	gingival:	n/a
8	chr13:92000673-92000723	SKMC	muscle:	n/a
9	chr13:92000113-92000163	Hela-S3	cervix:	n/a
10	chr13:92000225-92000275	PrEC	prostate:	n/a
11	chr13:92000667-92000717	ProgFib	skin:	n/a
12	chr13:92000113-92000163	Caco-2	colon:	n/a
13	chr13:92001440-92001490	PrEC	prostate:	n/a
14	chr13:92000667-92000717	HRCEpiC	kidney:	n/a
15	chr13:92000113-92000163	GM12878	blood:	n/a
16	chr13:92000113-92000163	NHDF-neo	bronchial:	n/a
17	chr13:91999862-91999912	SAEC	small airway:	n/a
18	chr13:92000667-92000717	HL-60	blood:	n/a
19	chr13:91999862-91999912	HCT-116	colon:	n/a
20	chr13:91999862-91999912	SK-N-MC	brain:	n/a
21	chr13:92000225-92000275	HRCEpiC	kidney:	n/a
22	chr13:92000113-92000163	A549	lung:	n/a
23	chr13:92000113-92000163	NHBE	bronchial:	n/a
24	chr13:92000667-92000717	SK-N-SH	brain:	n/a
25	chr13:92001440-92001490	HUVEC	blood vessel:	n/a
26	chr13:92000225-92000275	BJ	skin:	n/a
27	chr13:92000113-92000163	HEK293	kidney:	embryo
28	chr13:92001440-92001490	HCM	heart:	n/a
29	chr13:92000113-92000163	AG09319	gingival:	n/a
30	chr13:92000667-92000717	HUVEC	blood vessel:	n/a
31	chr13:91999862-91999912	ECC-1	luminal epithelium:	n/a
32	chr13:92000225-92000275	AoSMC	blood vessel:	n/a
33	chr13:92000667-92000717	GM19239	blood:	n/a
34	chr13:92000113-92000163	HIPEpiC	eye:	n/a
35	chr13:92000667-92000717	Hela-S3	cervix:	n/a
36	chr13:92000225-92000275	AG09319	gingival:	n/a
37	chr13:92001440-92001490	GM12878	blood:	n/a
38	chr13:92000673-92000723	PrEC	prostate:	n/a
39	chr13:92000113-92000163	Jurkat	blood:	n/a
40	chr13:92000667-92000717	HCT-116	colon:	n/a
41	chr13:92001440-92001490	Caco-2	colon:	n/a
42	chr13:92001440-92001490	BJ	skin:	n/a
43	chr13:91999862-91999912	NHBE	bronchial:	n/a
44	chr13:92001440-92001490	SKMC	muscle:	n/a
45	chr13:92000113-92000163	HRE	kidney:	n/a
46	chr13:92000673-92000723	RPTEC	kidney:	n/a
47	chr13:92001440-92001490	HIPEpiC	eye:	n/a
48	chr13:92000673-92000723	AG09319	gingival:	n/a
49	chr13:92000673-92000723	GM12891	blood:	n/a
50	chr13:92001440-92001490	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr13:92000031..92002100-chr13:111364097..111366110,2	K562	blood:
2	chr13:91999607..92001112-chr6:33239163..33241434,2	K562	blood:
3	chr11:65686358..65687859-chr13:91999900..92001660,2	K562	blood:
4	chr13:91998556..92001592-chr9:134150017..134155728,10	K562	blood:
5	chr13:91998997..92001437-chr21:34913809..34915620,2	K562	blood:
6	chr13:91999220..92000207-chr19:59055377..59055970,2	HCT-116	colon:
7	chr12:49656589..49659420-chr13:91999028..92001178,2	K562	blood:
8	chr13:92000570..92002705-chr3:129223670..129225638,2	MCF-7	breast:
9	chr13:91999905..92002821-chr22:19420290..19421943,2	K562	blood:
10	chr13:91999417..92000348-chr16:88922774..88923477,2	NB4	blood:
11	chr13:45910919..45912639-chr13:91999905..92002237,2	K562	blood:
12	chr13:91999950..92001498-chr6:27113724..27116525,2	K562	blood:
13	chr13:92001133..92002653-chr19:59054469..59057228,2	K562	blood:
14	chr13:92000407..92002112-chr3:5017943..5020563,2	K562	blood:
15	chr13:92000505..92003025-chr22:23522118..23523811,2	K562	blood:
16	chr13:91999993..92001632-chr2:85765128..85766944,2	K562	blood:
17	chr1:167905256..167905963-chr13:91999310..92000299,2	Hela-S3	cervix:
18	chr13:91999405..92003025-chr22:23522118..23524074,3	K562	blood:
19	chr13:92000736..92001706-chr15:45879106..45879976,2	Hela-S3	cervix:
20	chr13:91998556..92002777-chr9:134147037..134155728,18	K562	blood:
21	chr13:92000384..92001311-chr14:75745218..75745970,2	Hela-S3	cervix:
22	chr13:92001216..92001980-chr16:31191381..31192319,2	Hela-S3	cervix:
23	chr13:91998892..92001087-chrX:152952239..152954221,2	K562	blood:
24	chr1:33004093..33007091-chr13:91999311..92002195,5	K562	blood:
25	chr13:91999673..92001318-chr4:100870740..100872493,2	K562	blood:
26	chr13:91922956..91924872-chr13:91999191..92001609,2	K562	blood:
27	chr13:92000589..92001277-chr19:10491196..10491852,2	NB4	blood:
28	chr1:194760364..194761866-chr13:92000592..92002297,2	K562	blood:
29	chr13:92001025..92001805-chr13:92009322..92010182,2	K562	blood:
30	chr13:91999561..92000380-chr5:10563826..10564497,2	NB4	blood:
31	chr13:91999526..92000349-chr19:23432834..23433455,2	NB4	blood:
32	chr13:91998776..92000555-chr13:92831916..92834550,2	K562	blood:
33	chr13:91999824..92001564-chr22:17082538..17085283,2	K562	blood:
34	chr13:92001207..92003151-chr15:65588208..65589789,2	K562	blood:
35	chr13:91999520..92000389-chr2:47403088..47403880,2	Hela-S3	cervix:
36	chr13:91998254..92002103-chr22:22898499..22902488,4	K562	blood:
37	chr1:192777682..192778234-chr13:92000781..92001546,2	HCT-116	colon:
38	chr1:78468848..78471469-chr13:91999787..92002475,2	K562	blood:
39	chr13:92000503..92002491-chr5:137802235..137804530,2	K562	blood:
40	chr13:91998254..92001076-chr22:22898499..22901171,2	K562	blood:
41	chr13:92000620..92002691-chr16:85648157..85650450,2	K562	blood:
42	chr13:92000043..92002771-chr9:133971829..133974734,2	K562	blood:
43	chr13:92000564..92001131-chr6:31509453..31510104,2	Hela-S3	cervix:
44	chr13:92000244..92002396-chr3:195806622..195808883,2	K562	blood:
45	chr13:92000785..92001327-chr20:3869642..3870361,2	Hela-S3	cervix:
46	chr13:91999624..92000352-chr19:40596463..40597085,2	Hela-S3	cervix:
47	chr13:91999380..92000118-chr9:4679003..4679675,2	NB4	blood:
48	chr12:49350261..49351259-chr13:92000364..92001295,2	Hela-S3	cervix:
49	chr13:91999600..92001415-chr13:95232810..95234468,2	K562	blood:
50	chr11:65190192..65192335-chr13:91999791..92002488,2	K562	blood:

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

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

Extended variants
information (count: 44 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	rs528192162	chr13:92000559-92000560	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
17	rs544760928	chr13:92000588-92000589	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
18	rs564751394	chr13:92000639-92000640	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
19	rs530686187	chr13:92000673-92000674	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
20	rs550437759	chr13:92000757-92000758	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
21	rs567593299	chr13:92000789-92000790	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
22	rs530041135	chr13:92000807-92000808	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
23	rs9556079	chr13:92000810-92000811	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
24	rs546979327	chr13:92000815-92000816	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
25	rs566814919	chr13:92000842-92000843	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
26	rs539151875	chr13:92000888-92000889	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
27	rs559166483	chr13:92000902-92000903	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
28	rs569453652	chr13:92000998-92000999	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
29	rs538476835	chr13:92000999-92001000	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
30	rs554953673	chr13:92001049-92001050	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
31	rs143640687	chr13:92001054-92001055	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
32	rs542208877	chr13:92001059-92001060	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
33	rs552942800	chr13:92001089-92001090	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
34	rs572568462	chr13:92001095-92001096	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
35	rs544724936	chr13:92001131-92001132	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
36	rs369639693	chr13:92001227-92001228	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
37	rs527644671	chr13:92001243-92001244	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
38	rs531651566	chr13:92001277-92001278	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
39	rs148606845	chr13:92001281-92001282	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
40	rs530611318	chr13:92001363-92001364	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
41	rs184143976	chr13:92001401-92001402	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
42	rs548050958	chr13:92001426-92001427	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
43	rs530011264	chr13:92001461-92001462	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
44	rs4284505	chr13:92001472-92001473	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91998600-91999800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:91998800-91999800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr13:91998800-91999800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:91999000-91999800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:91999000-91999800	Active TSS	Fetal Kidney	kidney
6	chr13:91999000-91999800	Flanking Active TSS	HMEC	breast
7	chr13:91999000-92001000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:91999000-92001400	Active TSS	Rectal Smooth Muscle	rectum
9	chr13:91999000-92001600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr13:91999000-92001600	Active TSS	Brain Angular Gyrus	brain
11	chr13:91999000-92001600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr13:91999000-92001800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:91999000-92001800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:91999000-92001800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:91999000-92001800	Active TSS	Brain Substantia Nigra	brain
16	chr13:91999000-92002200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr13:91999000-92002200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:91999000-92002200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:91999000-92002200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:91999000-92002400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr13:91999000-92002800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:91999000-92003000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:91999200-91999800	Active TSS	Aorta	Aorta
24	chr13:91999200-91999800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr13:91999200-92000000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:91999200-92001400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr13:91999200-92001400	Active TSS	Left Ventricle	heart
28	chr13:91999200-92001600	Active TSS	Gastric	stomach
29	chr13:91999200-92001800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:91999200-92001800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:91999200-92001800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr13:91999200-92001800	Active TSS	Ovary	ovary
33	chr13:91999200-92002000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:91999200-92002000	Active TSS	Colonic Mucosa	Colon
35	chr13:91999200-92002000	Active TSS	Psoas Muscle	Psoas
36	chr13:91999200-92002000	Active TSS	Right Ventricle	heart
37	chr13:91999200-92002200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr13:91999200-92002400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr13:91999200-92002400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:91999400-91999800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr13:91999400-91999800	Active TSS	Fetal Lung	lung
42	chr13:91999400-92000600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
43	chr13:91999400-92001400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr13:91999400-92001400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr13:91999400-92001400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr13:91999400-92001600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:91999400-92001600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr13:91999400-92001600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr13:91999400-92001600	Active TSS	Brain Anterior Caudate	brain
50	chr13:91999400-92001600	Active TSS	Brain Hippocampus Middle	brain

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