Variant report

Variant	nsv1010398
Chromosome Location	chr1:151761649-151790940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:724)
CpG islands
(count:1405)
Chromatin interactive
region (count:79)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:724 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:151762968-151763481	K562	blood:	n/a	n/a
2	ARID3A	chr1:151762511-151762540	K562	blood:	n/a	n/a
3	ARID3A	chr1:151762806-151763546	HepG2	liver:	n/a	n/a
4	ATF1	chr1:151762878-151763402	K562	blood:	n/a	n/a
5	ATF3	chr1:151763010-151763462	A549	lung:	n/a	n/a
6	ATF3	chr1:151762974-151763518	K562	blood:	n/a	chr1:151763005-151763014
7	BACH1	chr1:151763469-151763630	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:151762578-151763116	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr1:151762775-151763542	HepG2	liver:	n/a	n/a
10	BHLHE40	chr1:151783942-151784049	K562	blood:	n/a	n/a
11	BHLHE40	chr1:151762730-151763452	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:151762664-151763608	K562	blood:	n/a	n/a
13	BRCA1	chr1:151776218-151776237	GM12878	blood:	n/a	n/a
14	BRCA1	chr1:151763176-151763526	GM12878	blood:	n/a	n/a
15	BRCA1	chr1:151763854-151764130	Hela-S3	cervix:	n/a	chr1:151763978-151763987
16	BRCA1	chr1:151763167-151763378	HepG2	liver:	n/a	n/a
17	BRCA1	chr1:151763856-151764117	HepG2	liver:	n/a	chr1:151763978-151763987
18	BRCA1	chr1:151763854-151764075	H1-hESC	embryonic stem cell:	n/a	chr1:151763978-151763987
19	BRCA1	chr1:151763849-151764151	GM12878	blood:	n/a	chr1:151763978-151763987
20	BRCA1	chr1:151762830-151762837	HepG2	liver:	n/a	n/a
21	BRCA1	chr1:151763007-151763393	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr1:151762594-151763556	K562	blood:	n/a	n/a
23	CCNT2	chr1:151763914-151764084	K562	blood:	n/a	n/a
24	CCNT2	chr1:151762576-151763185	K562	blood:	n/a	chr1:151763005-151763014
25	CEBPB	chr1:151782206-151782574	ECC-1	luminal epithelium:	n/a	n/a
26	CEBPB	chr1:151762766-151762905	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr1:151762623-151762739	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:151782710-151782928	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr1:151782631-151782939	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:151782105-151782536	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr1:151762553-151762706	K562	blood:	n/a	n/a
32	CEBPB	chr1:151782212-151782462	K562	blood:	n/a	n/a
33	CEBPB	chr1:151782157-151782506	HepG2	liver:	n/a	n/a
34	CEBPB	chr1:151763105-151763380	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr1:151782133-151782481	HepG2	liver:	n/a	n/a
36	CEBPD	chr1:151762695-151763056	HepG2	liver:	n/a	n/a
37	CEBPZ	chr1:151763000-151763466	HepG2	liver:	n/a	n/a
38	CHD1	chr1:151763756-151763944	GM12878	blood:	n/a	n/a
39	CHD2	chr1:151762742-151764174	HepG2	liver:	n/a	chr1:151763978-151763987
40	CHD2	chr1:151762802-151763553	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr1:151763791-151764141	H1-hESC	embryonic stem cell:	n/a	chr1:151763978-151763987
42	CHD2	chr1:151763771-151764163	Hela-S3	cervix:	n/a	chr1:151763978-151763987
43	CHD2	chr1:151762748-151763467	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr1:151762704-151763559	GM12878	blood:	n/a	n/a
45	CHD2	chr1:151762731-151764196	K562	blood:	n/a	chr1:151763978-151763987
46	CHD2	chr1:151782745-151782783	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr1:151763803-151764155	GM12878	blood:	n/a	chr1:151763978-151763987
48	CREB1	chr1:151762648-151763495	GM12878	blood:	n/a	n/a
49	CREB1	chr1:151762652-151763516	A549	lung:	n/a	n/a
50	CREB1	chr1:151763021-151763301	A549	lung:	n/a	n/a

(count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151763686-151763736	GM12892	blood:	n/a
2	chr1:151773258-151773308	AG04450	lung:	fetal
3	chr1:151763686-151763736	GM12892	blood:	n/a
4	chr1:151773258-151773308	AG04450	lung:	fetal
5	chr1:151762605-151762655	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:151763140-151763190	HepG2	liver:	n/a
7	chr1:151778404-151778454	HRE	kidney:	n/a
8	chr1:151762605-151762655	GM12891	blood:	n/a
9	chr1:151763213-151763263	HL-60	blood:	n/a
10	chr1:151763140-151763190	CMK	blood:	n/a
11	chr1:151773258-151773308	HNPCEpiC	eye:	n/a
12	chr1:151763686-151763736	BE2_C	brain:	n/a
13	chr1:151788227-151788277	NB4	blood:	n/a
14	chr1:151771856-151771906	SKMC	muscle:	n/a
15	chr1:151774615-151774665	Hepatocyte	liver:	n/a
16	chr1:151771856-151771906	GM12892	blood:	n/a
17	chr1:151777774-151777824	HIPEpiC	eye:	n/a
18	chr1:151774615-151774665	SKMC	muscle:	n/a
19	chr1:151771856-151771906	AoSMC	blood vessel:	n/a
20	chr1:151778404-151778454	PFSK-1	brain:	n/a
21	chr1:151763140-151763190	NHBE	bronchial:	n/a
22	chr1:151763686-151763736	SK-N-MC	brain:	n/a
23	chr1:151778255-151778305	SK-N-SH	brain:	n/a
24	chr1:151771856-151771906	GM12878	blood:	n/a
25	chr1:151762605-151762655	MCF10A-Er-Src	breast:	n/a
26	chr1:151771856-151771906	ECC-1	luminal epithelium:	n/a
27	chr1:151763997-151764047	K562	blood:	n/a
28	chr1:151778404-151778454	NB4	blood:	n/a
29	chr1:151774615-151774665	AG09309	skin:	n/a
30	chr1:151763213-151763263	H1-hESC	embryonic stem cell:	embryo
31	chr1:151778255-151778305	ECC-1	luminal epithelium:	n/a
32	chr1:151762261-151762311	HMEC	breast:	n/a
33	chr1:151763213-151763263	Caco-2	colon:	n/a
34	chr1:151763213-151763263	SKMC	muscle:	n/a
35	chr1:151778404-151778454	NT2-D1	testis:	n/a
36	chr1:151774615-151774665	A549	lung:	n/a
37	chr1:151774615-151774665	HCF	heart:	n/a
38	chr1:151764147-151764197	NT2-D1	testis:	n/a
39	chr1:151763866-151763916	NT2-D1	testis:	n/a
40	chr1:151762261-151762311	IMR90	lung:	fetal
41	chr1:151788227-151788277	MCF-7	breast:	n/a
42	chr1:151767754-151767804	AG04449	skin:	fetal
43	chr1:151762605-151762655	SKMC	muscle:	n/a
44	chr1:151771856-151771906	Hela-S3	cervix:	n/a
45	chr1:151764147-151764197	ovcar-3	ovarian:	n/a
46	chr1:151774615-151774665	ovcar-3	ovarian:	n/a
47	chr1:151774615-151774665	HUVEC	blood vessel:	n/a
48	chr1:151763213-151763263	SK-N-MC	brain:	n/a
49	chr1:151777000-151777050	A549	lung:	n/a
50	chr1:151762605-151762655	AG09309	skin:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:151782530..151784073-chr1:151786913..151788709,2	MCF-7	breast:
2	chr1:151773064..151773919-chr1:151809447..151809983,2	MCF-7	breast:
3	chr1:151779253..151781376-chr1:151783822..151786859,3	MCF-7	breast:
4	chr1:151763491..151766160-chr1:151779828..151782203,2	MCF-7	breast:
5	chr1:151789037..151791366-chr1:151802324..151804335,2	K562	blood:
6	chr1:151583249..151586152-chr1:151761338..151763937,3	K562	blood:
7	chr1:151774281..151778666-chr1:151812036..151815315,4	MCF-7	breast:
8	chr1:151749151..151752129-chr1:151789791..151791884,2	MCF-7	breast:
9	chr1:151764017..151766506-chr1:151773609..151776355,2	K562	blood:
10	chr1:151739515..151742335-chr1:151761325..151763693,2	MCF-7	breast:
11	chr1:151789315..151792282-chr1:151793123..151796667,3	MCF-7	breast:
12	chr1:151765213..151767504-chr1:151768448..151770871,2	K562	blood:
13	chr1:151779245..151781251-chr1:151789971..151792071,2	K562	blood:
14	chr1:151762360..151764432-chr1:151777142..151778868,2	MCF-7	breast:
15	chr1:151770963..151775334-chr1:151775936..151780512,5	MCF-7	breast:
16	chr1:151771040..151773951-chr1:151782694..151784484,3	K562	blood:
17	chr1:151727449..151729119-chr1:151762483..151764442,2	K562	blood:
18	chr1:151042193..151044467-chr1:151761804..151763901,2	MCF-7	breast:
19	chr1:151764011..151766318-chr1:151811663..151813928,2	MCF-7	breast:
20	chr1:151771155..151774343-chr1:151777363..151779853,3	MCF-7	breast:
21	chr1:151770881..151774367-chr1:151786518..151790478,5	MCF-7	breast:
22	chr1:151781396..151783619-chr1:151785148..151786691,2	MCF-7	breast:
23	chr1:151762360..151764432-chr1:151777142..151778868,2	MCF-7	breast:
24	chr1:151768576..151770076-chr2:178087372..178090001,2	K562	blood:
25	chr1:151774351..151777755-chr1:151779800..151782368,3	K562	blood:
26	chr1:151779508..151782077-chr1:151785257..151787936,2	K562	blood:
27	chr1:151781556..151784373-chr1:151812437..151814375,2	MCF-7	breast:
28	chr1:151767158..151768819-chr1:151776141..151778776,2	K562	blood:
29	chr1:151789798..151791316-chr1:151791321..151793300,2	MCF-7	breast:
30	chr1:151761172..151762786-chr1:151788164..151789988,2	MCF-7	breast:
31	chr1:151779245..151781251-chr1:151789971..151792071,2	K562	blood:
32	chr1:151762059..151766604-chr1:151800169..151809078,15	MCF-7	breast:
33	chr1:151735509..151737891-chr1:151761737..151764631,3	K562	blood:
34	chr1:151777741..151780007-chr1:151780011..151781541,2	MCF-7	breast:
35	chr1:151760926..151765128-chr1:151802888..151806720,6	MCF-7	breast:
36	chr1:151765429..151768125-chr1:151768260..151772784,4	K562	blood:
37	chr1:151788480..151790038-chr1:151792565..151794088,2	K562	blood:
38	chr1:151757663..151759545-chr1:151774572..151776785,2	K562	blood:
39	chr1:151777634..151779857-chr1:151790173..151792393,2	MCF-7	breast:
40	chr1:151789925..151792025-chr1:151796878..151798485,2	K562	blood:
41	chr1:151752426..151754254-chr1:151778758..151780979,2	K562	blood:
42	chr1:151782377..151784450-chr1:151790300..151792878,2	MCF-7	breast:
43	chr1:151779832..151781359-chr1:151797431..151800112,2	MCF-7	breast:
44	chr1:151768494..151771422-chr17:57914109..57917463,3	MCF-7	breast:
45	chr1:151761843..151763864-chr1:151779499..151782273,2	MCF-7	breast:
46	chr1:151734278..151737585-chr1:151760529..151764689,8	MCF-7	breast:
47	chr1:151782043..151784964-chr1:151791094..151793186,2	K562	blood:
48	chr1:151782377..151784450-chr1:151790300..151792878,2	MCF-7	breast:
49	chr1:151774351..151777755-chr1:151779800..151782368,3	K562	blood:
50	chr1:151771040..151773951-chr1:151782694..151784484,3	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-1	chr1:151766291-151766878	ENSG00000203288.3
2	lnc-OAZ3-1	chr1:151763911-151764021	ENSG00000203288.3
3	lnc-OAZ3-1	chr1:151763911-151764124	NONHSAT006432
4	lnc-OAZ3-1	chr1:151763316-151763721	NONHSAT006432
5	lnc-OAZ3-9	chr1:151765184-151765578	FPKM1_group_1486_transcript_2
6	lnc-OAZ3-9	chr1:151765190-151765397	FPKM1_group_1486_transcript_2
7	lnc-OAZ3-10	chr1:151770530-151771078	ENSG00000269489.1
8	lnc-OAZ3-1	chr1:151763280-151763721	ENSG00000203288.3
9	lnc-OAZ3-9	chr1:151765784-151765991	NONHSAT006434
10	lnc-OAZ3-1	chr1:151763318-151763721	ENSG00000203288.3
11	lnc-OAZ3-9	chr1:151765184-151765578	NONHSAT006434

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RORC	hsa-miR-335-5p	chr1:151778844-151778866

Variant related genes	Relation type
LINGO4	TF binding region
TDRKH	TF binding region
RORC	TF binding region
ENSG00000269489	TF binding region
ENSG00000203288	TF binding region
LINGO4	CpG island
TDRKH	CpG island
RORC	CpG island
ENSG00000269489	CpG island
ENSG00000203288	CpG island
ENSG00000143458	chromatin interactions
ENSG00000201134	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000197622	chromatin interactions
ENSG00000249602	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000269621	chromatin interactions
ENSG00000225556	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000159377	chromatin interactions
ENSG00000250734	chromatin interactions
ENSG00000143365	chromatin interactions
ENSG00000143436	chromatin interactions
ENSG00000232937	chromatin interactions
ENSG00000143450	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000236940	chromatin interactions
ENSG00000269489	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000234614	chromatin interactions
ENSG00000203288	chromatin interactions
ENSG00000213171	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000182134	chromatin interactions

Extended variants
information (count: 1266 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1266 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537153740	chr1:151761650-151761651	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs557401457	chr1:151761692-151761693	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs377020162	chr1:151761701-151761702	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs576845255	chr1:151761728-151761729	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs545778727	chr1:151761800-151761801	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs868866	chr1:151761804-151761805	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs151273522	chr1:151761854-151761855	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs868867	chr1:151761865-151761866	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs114500367	chr1:151761874-151761875	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs868868	chr1:151762108-151762109	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs543986713	chr1:151762141-151762142	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs140448218	chr1:151762151-151762152	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs150392233	chr1:151762187-151762188	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs376145193	chr1:151762188-151762189	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs546615430	chr1:151762191-151762192	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs77364965	chr1:151762238-151762239	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs571806845	chr1:151762242-151762243	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs554856012	chr1:151762286-151762287	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs11810571	chr1:151762308-151762309	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369005664	chr1:151762312-151762313	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs568979262	chr1:151762357-151762358	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs183678672	chr1:151762419-151762420	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs557210896	chr1:151762490-151762491	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs116607765	chr1:151762496-151762497	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs147854200	chr1:151762525-151762526	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs557962690	chr1:151762535-151762536	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs35882928	chr1:151762570-151762571	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs189021458	chr1:151762581-151762582	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs141407714	chr1:151762584-151762585	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs542178001	chr1:151762595-151762596	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs372053296	chr1:151762596-151762597	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs555988997	chr1:151762631-151762632	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs575782033	chr1:151762671-151762672	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs193150025	chr1:151762715-151762716	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs564214495	chr1:151762728-151762729	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs533049908	chr1:151762729-151762730	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs183578896	chr1:151762732-151762733	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs560194838	chr1:151762734-151762735	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs373683526	chr1:151762752-151762753	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs556519327	chr1:151762772-151762773	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs187495105	chr1:151762796-151762797	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs561578444	chr1:151762819-151762820	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs75526362	chr1:151762834-151762835	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs191549221	chr1:151762865-151762866	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs371926898	chr1:151762929-151762930	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs531435874	chr1:151762930-151762931	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs551160069	chr1:151762937-151762938	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs571066129	chr1:151762938-151762939	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs573773847	chr1:151762946-151762947	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs539547503	chr1:151762973-151762974	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD

Chromatin state (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151736800-151762600	Weak transcription	Gastric	stomach
2	chr1:151737000-151762400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:151737000-151762400	Weak transcription	HSMMtube	muscle
4	chr1:151737000-151762600	Weak transcription	Small Intestine	intestine
5	chr1:151741000-151762600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:151742800-151762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:151744000-151762200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:151744600-151762200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:151746000-151762400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:151746800-151762000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:151747000-151762400	Weak transcription	Psoas Muscle	Psoas
12	chr1:151747000-151762400	Weak transcription	Right Ventricle	heart
13	chr1:151747200-151762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:151747600-151762400	Weak transcription	Pancreas	Pancrea
15	chr1:151748400-151762200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:151748600-151762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:151748800-151761800	Weak transcription	HepG2	liver
18	chr1:151748800-151762400	Weak transcription	Colonic Mucosa	Colon
19	chr1:151749200-151762600	Weak transcription	Spleen	Spleen
20	chr1:151749400-151762400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:151749600-151762000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:151749600-151762200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:151749600-151762600	Weak transcription	Lung	lung
24	chr1:151751200-151762000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:151751200-151762400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:151751400-151762000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:151751400-151762200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:151751400-151762400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:151751600-151762200	Weak transcription	Brain Angular Gyrus	brain
30	chr1:151751600-151762400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:151752400-151762000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:151752400-151762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:151752400-151762400	Weak transcription	Ovary	ovary
34	chr1:151752600-151761800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:151752600-151762000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:151752600-151762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:151752600-151762000	Weak transcription	Adipose Nuclei	Adipose
38	chr1:151752600-151762000	Weak transcription	Liver	Liver
39	chr1:151752600-151762000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:151752600-151762200	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:151752600-151762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:151752800-151762000	Weak transcription	Brain Substantia Nigra	brain
43	chr1:151752800-151762000	Weak transcription	Fetal Brain Male	brain
44	chr1:151753000-151761800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:151753000-151762000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:151753000-151762000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:151753000-151762000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:151754200-151762200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:151754400-151761800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:151754400-151761800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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