Variant report

Variant	esv1806302
Chromosome Location	chr2:100094799-100123030
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	chr2:100106704-100107165	K562	blood:	n/a	n/a
2	ARID3A	chr2:100106642-100107333	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:100101926-100102141	K562	blood:	n/a	n/a
4	ATF1	chr2:100094906-100095064	K562	blood:	n/a	n/a
5	ATF2	chr2:100098321-100098731	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr2:100098389-100098667	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr2:100106467-100107234	GM12878	blood:	n/a	n/a
8	ATF3	chr2:100105956-100106296	K562	blood:	n/a	chr2:100106063-100106071
9	ATF3	chr2:100106477-100106874	H1-hESC	embryonic stem cell:	n/a	chr2:100106504-100106513
10	ATF3	chr2:100106507-100106988	HepG2	liver:	n/a	n/a
11	ATF3	chr2:100106566-100106988	A549	lung:	n/a	n/a
12	ATF3	chr2:100106558-100107268	HepG2	liver:	n/a	n/a
13	ATF3	chr2:100106451-100106995	GM12878	blood:	n/a	chr2:100106504-100106513
14	ATF3	chr2:100106600-100106832	GM12878	blood:	n/a	n/a
15	ATF3	chr2:100106345-100106896	K562	blood:	n/a	chr2:100106504-100106513
16	ATF3	chr2:100101921-100102207	K562	blood:	n/a	n/a
17	ATF3	chr2:100106585-100106829	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr2:100112041-100112226	K562	blood:	n/a	n/a
19	BACH1	chr2:100103095-100103239	K562	blood:	n/a	n/a
20	BACH1	chr2:100106288-100107323	K562	blood:	n/a	n/a
21	BACH1	chr2:100108838-100108869	K562	blood:	n/a	n/a
22	BACH1	chr2:100122029-100122098	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr2:100105699-100107316	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr2:100120517-100120744	GM12878	blood:	n/a	chr2:100120649-100120660 chr2:100120621-100120632
25	BCL11A	chr2:100106507-100106931	GM12878	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106688-100106701
26	BCL11A	chr2:100098408-100098588	H1-hESC	embryonic stem cell:	n/a	n/a
27	BCL3	chr2:100106288-100106834	GM12878	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106408-100106421 chr2:100106340-100106353 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106346-100106355 chr2:100106688-100106701
28	BCLAF1	chr2:100106267-100107231	GM12878	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106408-100106421 chr2:100106340-100106353 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106346-100106355 chr2:100107150-100107163 chr2:100106688-100106701
29	BCLAF1	chr2:100106546-100107257	GM12878	blood:	n/a	chr2:100106587-100106600 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100107150-100107163 chr2:100106688-100106701
30	BCLAF1	chr2:100106213-100106927	K562	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106408-100106421 chr2:100106340-100106353 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106346-100106355 chr2:100106688-100106701
31	BHLHE40	chr2:100105004-100105678	K562	blood:	n/a	n/a
32	BHLHE40	chr2:100098590-100098937	K562	blood:	n/a	n/a
33	BHLHE40	chr2:100105969-100107373	K562	blood:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106181-100106197 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106346-100106362 chr2:100106720-100106729 chr2:100106189-100106205
34	BHLHE40	chr2:100106520-100106893	HepG2	liver:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106720-100106729
35	BHLHE40	chr2:100105532-100107280	HepG2	liver:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106181-100106197 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106346-100106362 chr2:100106720-100106729 chr2:100106189-100106205
36	BHLHE40	chr2:100102274-100102475	K562	blood:	n/a	n/a
37	BHLHE40	chr2:100106535-100107099	A549	lung:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106720-100106729
38	BHLHE40	chr2:100105996-100107238	GM12878	blood:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106181-100106197 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106346-100106362 chr2:100106720-100106729 chr2:100106189-100106205
39	BHLHE40	chr2:100106446-100106948	HepG2	liver:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106720-100106729
40	BRCA1	chr2:100106642-100106788	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr2:100106654-100107013	HepG2	liver:	n/a	n/a
42	BRCA1	chr2:100106642-100107258	Hela-S3	cervix:	n/a	n/a
43	CBX3	chr2:100106595-100107185	K562	blood:	n/a	n/a
44	CBX3	chr2:100106558-100107241	K562	blood:	n/a	n/a
45	CCNT2	chr2:100105647-100107150	K562	blood:	n/a	chr2:100106484-100106493 chr2:100106037-100106046 chr2:100106667-100106676 chr2:100106338-100106347 chr2:100106151-100106160 chr2:100106545-100106554
46	CEBPB	chr2:100105858-100107896	Hela-S3	cervix:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100106054-100106067 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
47	CEBPB	chr2:100106712-100107908	IMR90	lung:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
48	CEBPB	chr2:100107397-100107824	H1-hESC	embryonic stem cell:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
49	CEBPB	chr2:100106667-100107160	K562	blood:	n/a	n/a
50	CEBPB	chr2:100109223-100109563	A549	lung:	n/a	chr2:100109384-100109395

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100106285-100106335	ECC-1	luminal epithelium:	n/a
2	chr2:100105657-100105707	ECC-1	luminal epithelium:	n/a
3	chr2:100105657-100105707	NH-A	brain:	n/a
4	chr2:100107157-100107207	K562	blood:	n/a
5	chr2:100106147-100106197	SAEC	small airway:	n/a
6	chr2:100105657-100105707	GM12892	blood:	n/a
7	chr2:100106147-100106197	HNPCEpiC	eye:	n/a
8	chr2:100106285-100106335	HRCEpiC	kidney:	n/a
9	chr2:100109838-100109888	PFSK-1	brain:	n/a
10	chr2:100106981-100107031	K562	blood:	n/a
11	chr2:100106981-100107031	Jurkat	blood:	n/a
12	chr2:100107157-100107207	SAEC	small airway:	n/a
13	chr2:100105657-100105707	GM19239	blood:	n/a
14	chr2:100107195-100107245	HRE	kidney:	n/a
15	chr2:100106981-100107031	NT2-D1	testis:	n/a
16	chr2:100109838-100109888	SK-N-MC	brain:	n/a
17	chr2:100106981-100107031	T-47D	breast:	n/a
18	chr2:100109838-100109888	SK-N-SH	brain:	n/a
19	chr2:100109838-100109888	T-47D	breast:	n/a
20	chr2:100105657-100105707	NHBE	bronchial:	n/a
21	chr2:100106981-100107031	HCPEpiC	choroid plexus:	n/a
22	chr2:100106285-100106335	HIPEpiC	eye:	n/a
23	chr2:100107195-100107245	HCPEpiC	choroid plexus:	n/a
24	chr2:100107157-100107207	SK-N-MC	brain:	n/a
25	chr2:100106981-100107031	RPTEC	kidney:	n/a
26	chr2:100107195-100107245	AoSMC	blood vessel:	n/a
27	chr2:100107157-100107207	GM19239	blood:	n/a
28	chr2:100106981-100107031	HCF	heart:	n/a
29	chr2:100106285-100106335	HCM	heart:	n/a
30	chr2:100105657-100105707	GM12891	blood:	n/a
31	chr2:100107157-100107207	IMR90	lung:	fetal
32	chr2:100106981-100107031	BJ	skin:	n/a
33	chr2:100106981-100107031	HL-60	blood:	n/a
34	chr2:100106147-100106197	HIPEpiC	eye:	n/a
35	chr2:100105657-100105707	SAEC	small airway:	n/a
36	chr2:100105657-100105707	NT2-D1	testis:	n/a
37	chr2:100107195-100107245	SK-N-SH_RA	brain:	n/a
38	chr2:100109838-100109888	GM12892	blood:	n/a
39	chr2:100107195-100107245	GM12892	blood:	n/a
40	chr2:100106285-100106335	PrEC	prostate:	n/a
41	chr2:100106285-100106335	Caco-2	colon:	n/a
42	chr2:100106285-100106335	PANC-1	pancreas:	n/a
43	chr2:100107195-100107245	HRPEpiC	eye:	n/a
44	chr2:100106285-100106335	K562	blood:	n/a
45	chr2:100109838-100109888	HCPEpiC	choroid plexus:	n/a
46	chr2:100106981-100107031	GM12892	blood:	n/a
47	chr2:100109838-100109888	IMR90	lung:	fetal
48	chr2:100105657-100105707	HIPEpiC	eye:	n/a
49	chr2:100105657-100105707	AG10803	skin:	n/a
50	chr2:100105657-100105707	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr2:100105429..100107219-chr2:100122724..100124347,2	K562	blood:
2	chr2:100091970..100094649-chr2:100104238..100106048,2	MCF-7	breast:
3	chr2:100099713..100102517-chr2:100102817..100104971,3	MCF-7	breast:
4	chr2:100112373..100112873-chr8:96806829..96807463,2	MCF-7	breast:
5	chr2:100099713..100102517-chr2:100102817..100104971,3	MCF-7	breast:
6	chr2:100106074..100106604-chr6:43021248..43021884,2	Hela-S3	cervix:
7	chr2:100108007..100111568-chr2:100119889..100123182,3	K562	blood:
8	chr2:100046503..100049390-chr2:100109448..100111972,2	MCF-7	breast:
9	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
10	chr2:100045644..100048567-chr2:100103283..100105124,2	K562	blood:
11	chr2:100088451..100090156-chr2:100093150..100094831,2	MCF-7	breast:
12	chr2:100077312..100079751-chr2:100099970..100102811,3	K562	blood:
13	chr2:100115460..100118447-chr2:100120634..100122692,2	MCF-7	breast:
14	chr2:100092416..100102947-chr2:100103557..100108181,19	MCF-7	breast:
15	chr2:27881530..27883047-chr2:100099438..100101050,2	MCF-7	breast:
16	chr2:100103127..100105220-chr2:100105235..100107072,2	MCF-7	breast:
17	chr2:100019781..100021613-chr2:100105810..100107711,2	MCF-7	breast:
18	chr2:99951551..99954108-chr2:100100091..100102381,2	K562	blood:
19	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
20	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
21	chr2:99485026..99487433-chr2:100105196..100107704,3	MCF-7	breast:
22	chr2:100077312..100079121-chr2:100100989..100102811,2	K562	blood:
23	chr2:100064922..100067755-chr2:100103657..100105818,3	MCF-7	breast:
24	chr2:100091037..100094858-chr2:100099869..100102767,4	K562	blood:
25	chr2:99952384..99954745-chr2:100101155..100103970,2	K562	blood:
26	chr2:99757691..99759366-chr2:100118127..100120844,2	MCF-7	breast:
27	chr2:100104879..100106389-chr2:100120710..100122893,2	MCF-7	breast:
28	chr2:100105839..100108268-chr2:100110978..100113456,2	K562	blood:
29	chr2:100115460..100118447-chr2:100120634..100122692,2	MCF-7	breast:
30	chr2:100100281..100102788-chr2:100105250..100107935,2	MCF-7	breast:
31	chr2:99796371..99799059-chr2:100100777..100103682,2	MCF-7	breast:
32	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
33	chr2:100011720..100013891-chr2:100102274..100104165,2	K562	blood:
34	chr2:100082529..100085149-chr2:100097513..100099480,2	K562	blood:
35	chr2:100082191..100084657-chr2:100091943..100094929,2	K562	blood:
36	chr2:99796217..99799127-chr2:100105224..100108883,4	K562	blood:
37	chr2:100104896..100107637-chr2:100115172..100117692,2	MCF-7	breast:
38	chr2:99952415..99954577-chr2:100101593..100103318,2	MCF-7	breast:
39	chr2:100091441..100093893-chr2:100095526..100097800,4	K562	blood:
40	chr2:100106165..100109340-chr2:100112910..100115092,3	K562	blood:
41	chr11:63580406..63581266-chr2:100105797..100106443,2	MCF-7	breast:
42	chr2:100108007..100111568-chr2:100119889..100123182,3	K562	blood:
43	chr2:100105801..100108163-chr2:100108777..100110702,3	K562	blood:
44	chr2:100091037..100094858-chr2:100099869..100102767,4	K562	blood:
45	chr2:100104879..100106389-chr2:100120710..100122893,2	MCF-7	breast:
46	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
47	chr2:100106008..100108936-chr2:100109053..100113272,5	MCF-7	breast:
48	chr2:100105579..100107417-chr2:100107751..100110835,3	MCF-7	breast:
49	chr2:100019850..100022413-chr2:100104870..100107869,3	MCF-7	breast:
50	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF5B-1	chr2:100107781-100108142	XLOC_001588
2	lnc-REV1-1	chr2:100116098-100116333	NONHSAT072760

Variant related genes	Relation type
REV1	TF binding region
REV1	CpG island
ENSG00000273306	chromatin interactions
ENSG00000185414	chromatin interactions
ENSG00000135951	chromatin interactions
ENSG00000115514	chromatin interactions
ENSG00000273045	chromatin interactions
ENSG00000196872	chromatin interactions
ENSG00000170500	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000158411	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000044090	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000140374	chromatin interactions
ENSG00000241962	chromatin interactions

Extended variants
information (count: 997 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:997 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1011633	chr2:100094799-100094800	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553403470	chr2:100094820-100094821	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150023447	chr2:100094824-100094825	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539212064	chr2:100094890-100094891	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556355966	chr2:100094919-100094920	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145361582	chr2:100094935-100094936	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542154323	chr2:100094967-100094968	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377766515	chr2:100094995-100094996	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561116417	chr2:100095028-100095029	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184693371	chr2:100095046-100095047	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540637360	chr2:100095054-100095055	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560545121	chr2:100095105-100095106	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs72958359	chr2:100095175-100095176	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546056222	chr2:100095176-100095177	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189061312	chr2:100095200-100095201	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6737560	chr2:100095219-100095220	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs548820219	chr2:100095242-100095243	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181306156	chr2:100095258-100095259	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527265203	chr2:100095266-100095267	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547003126	chr2:100095275-100095276	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs72958362	chr2:100095316-100095317	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539176812	chr2:100095349-100095350	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375414036	chr2:100095351-100095352	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543309317	chr2:100095369-100095370	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556082616	chr2:100095403-100095404	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569873712	chr2:100095406-100095407	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185566873	chr2:100095410-100095411	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555593140	chr2:100095533-100095534	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572395090	chr2:100095550-100095551	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148425132	chr2:100095572-100095573	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554244393	chr2:100095619-100095620	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577410948	chr2:100095636-100095637	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546318051	chr2:100095651-100095652	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562848934	chr2:100095661-100095662	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531885342	chr2:100095663-100095664	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371631883	chr2:100095694-100095695	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547554755	chr2:100095706-100095707	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566874760	chr2:100095717-100095718	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559308233	chr2:100095737-100095738	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374544002	chr2:100095743-100095744	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13427780	chr2:100095748-100095749	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs201771253	chr2:100095760-100095761	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528011486	chr2:100095761-100095762	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191111797	chr2:100095776-100095777	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373974745	chr2:100095788-100095789	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552490546	chr2:100095789-100095790	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75527926	chr2:100095791-100095792	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs60839666	chr2:100095806-100095807	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377032695	chr2:100095807-100095808	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180973994	chr2:100095820-100095821	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1272 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100075200-100103000	Weak transcription	Hela-S3	cervix
2	chr2:100076200-100098400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:100076600-100094800	Weak transcription	Spleen	Spleen
5	chr2:100076600-100104200	Weak transcription	NHLF	lung
6	chr2:100078600-100096800	Weak transcription	NH-A	brain
7	chr2:100078800-100101400	Weak transcription	Fetal Lung	lung
8	chr2:100078800-100103000	Weak transcription	Primary B cells from cord blood	blood
9	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:100079200-100096600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:100079200-100098400	Weak transcription	NHDF-Ad	bronchial
12	chr2:100079200-100104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:100080400-100103200	Weak transcription	Fetal Stomach	stomach
14	chr2:100080600-100098000	Weak transcription	Dnd41	blood
15	chr2:100080800-100103200	Weak transcription	HSMM	muscle
16	chr2:100085600-100103000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:100086000-100102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:100086400-100102000	Weak transcription	Thymus	Thymus
19	chr2:100087800-100095000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:100087800-100098400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:100088000-100094800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:100088000-100104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:100088200-100098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:100089200-100099800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:100089400-100098000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:100089400-100098400	Weak transcription	Brain Angular Gyrus	brain
27	chr2:100089600-100102200	Weak transcription	Fetal Thymus	thymus
28	chr2:100090400-100098400	Weak transcription	Primary T cells from cord blood	blood
29	chr2:100090600-100096800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:100090600-100097400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:100090800-100101800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:100091000-100095600	Enhancers	Liver	Liver
33	chr2:100091200-100095400	Enhancers	Ovary	ovary
34	chr2:100091200-100096600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:100091400-100098000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:100091400-100098000	Weak transcription	Lung	lung
37	chr2:100091400-100098400	Weak transcription	Stomach Mucosa	stomach
38	chr2:100091400-100103200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:100091800-100095400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:100091800-100103400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:100092000-100095400	Enhancers	Left Ventricle	heart
42	chr2:100092200-100096600	Weak transcription	Brain Anterior Caudate	brain
43	chr2:100092200-100096800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:100092200-100101600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:100092400-100094800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:100092400-100096600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:100092600-100094800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:100092600-100096800	Weak transcription	Fetal Kidney	kidney
49	chr2:100092600-100098600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:100092600-100100400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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