Variant report

Variant	nsv516369
Chromosome Location	chr1:151780177-151820324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1269)
CpG islands
(count:1891)
Chromatin interactive
region (count:149)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:151808941-151809217	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:151805200-151805358	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:151803380-151803542	HepG2	liver:	n/a	n/a
4	BACH1	chr1:151811102-151811254	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:151812338-151812492	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:151818746-151819120	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr1:151808820-151809287	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:151808965-151809196	K562	blood:	n/a	n/a
9	BHLHE40	chr1:151783942-151784049	K562	blood:	n/a	n/a
10	BHLHE40	chr1:151815976-151816258	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:151804786-151805661	HepG2	liver:	n/a	n/a
12	BHLHE40	chr1:151810621-151811469	GM12878	blood:	n/a	n/a
13	BHLHE40	chr1:151808928-151809235	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:151812260-151812487	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:151818555-151819014	K562	blood:	n/a	n/a
16	BHLHE40	chr1:151803326-151803448	K562	blood:	n/a	n/a
17	BRCA1	chr1:151809124-151809225	HepG2	liver:	n/a	n/a
18	BRCA1	chr1:151811457-151811642	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr1:151803246-151803585	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr1:151804298-151804459	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr1:151818701-151819028	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr1:151808884-151809800	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr1:151805090-151805410	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr1:151803273-151803590	K562	blood:	n/a	n/a
25	CBX3	chr1:151818515-151818966	K562	blood:	n/a	n/a
26	CEBPB	chr1:151782212-151782462	K562	blood:	n/a	n/a
27	CEBPB	chr1:151808933-151809820	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr1:151808927-151809346	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr1:151804964-151805363	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr1:151804875-151805543	MCF-7	breast:	n/a	n/a
31	CEBPB	chr1:151805133-151805292	IMR90	lung:	n/a	n/a
32	CEBPB	chr1:151782206-151782574	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr1:151805092-151805233	A549	lung:	n/a	n/a
34	CEBPB	chr1:151805016-151805354	HepG2	liver:	n/a	n/a
35	CEBPB	chr1:151782631-151782939	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr1:151818622-151818925	K562	blood:	n/a	n/a
37	CEBPB	chr1:151782105-151782536	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr1:151805084-151805267	HepG2	liver:	n/a	n/a
39	CEBPB	chr1:151803236-151803484	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr1:151804989-151805362	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:151782133-151782481	HepG2	liver:	n/a	n/a
42	CEBPB	chr1:151807608-151807826	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr1:151782157-151782506	HepG2	liver:	n/a	n/a
44	CEBPB	chr1:151805068-151805393	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr1:151792715-151793056	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr1:151804840-151805521	MCF-7	breast:	n/a	n/a
47	CEBPB	chr1:151818725-151819020	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr1:151804180-151804501	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr1:151813744-151813756	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr1:151782710-151782928	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1891 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151813779-151813829	CMK	blood:	n/a
2	chr1:151812435-151812485	K562	blood:	n/a
3	chr1:151811364-151811414	GM19239	blood:	n/a
4	chr1:151812710-151812760	T-47D	breast:	n/a
5	chr1:151814634-151814684	NHDF-neo	bronchial:	n/a
6	chr1:151809534-151809584	GM12892	blood:	n/a
7	chr1:151805634-151805684	SAEC	small airway:	n/a
8	chr1:151811620-151811670	BE2_C	brain:	n/a
9	chr1:151810589-151810639	PrEC	prostate:	n/a
10	chr1:151798824-151798874	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:151810887-151810937	Hepatocyte	liver:	n/a
12	chr1:151810899-151810949	BJ	skin:	n/a
13	chr1:151810589-151810639	HCPEpiC	choroid plexus:	n/a
14	chr1:151812524-151812574	HRCEpiC	kidney:	n/a
15	chr1:151810899-151810949	HEEpiC	esophagus:	n/a
16	chr1:151810485-151810535	A549	lung:	n/a
17	chr1:151810899-151810949	GM12892	blood:	n/a
18	chr1:151812421-151812471	NHBE	bronchial:	n/a
19	chr1:151812710-151812760	K562	blood:	n/a
20	chr1:151806893-151806943	HUVEC	blood vessel:	n/a
21	chr1:151805241-151805291	SAEC	small airway:	n/a
22	chr1:151813779-151813829	GM12892	blood:	n/a
23	chr1:151810899-151810949	Caco-2	colon:	n/a
24	chr1:151788227-151788277	MCF10A-Er-Src	breast:	n/a
25	chr1:151810904-151810954	HepG2	liver:	n/a
26	chr1:151800946-151800996	AG04450	lung:	fetal
27	chr1:151812710-151812760	HNPCEpiC	eye:	n/a
28	chr1:151799073-151799123	AG09309	skin:	n/a
29	chr1:151812435-151812485	Jurkat	blood:	n/a
30	chr1:151804260-151804310	GM19239	blood:	n/a
31	chr1:151804260-151804310	ProgFib	skin:	n/a
32	chr1:151812435-151812485	AG09309	skin:	n/a
33	chr1:151810589-151810639	Hepatocyte	liver:	n/a
34	chr1:151810893-151810943	HCM	heart:	n/a
35	chr1:151810485-151810535	BJ	skin:	n/a
36	chr1:151812710-151812760	LNCaP	prostate:	n/a
37	chr1:151812435-151812485	AG10803	skin:	n/a
38	chr1:151810887-151810937	HUVEC	blood vessel:	n/a
39	chr1:151810893-151810943	GM06990	blood:	n/a
40	chr1:151813779-151813829	PFSK-1	brain:	n/a
41	chr1:151800946-151800996	SK-N-MC	brain:	n/a
42	chr1:151811364-151811414	HCPEpiC	choroid plexus:	n/a
43	chr1:151788227-151788277	HCT-116	colon:	n/a
44	chr1:151818922-151818972	Hela-S3	cervix:	n/a
45	chr1:151798432-151798482	AG09309	skin:	n/a
46	chr1:151799073-151799123	PFSK-1	brain:	n/a
47	chr1:151812524-151812574	PANC-1	pancreas:	n/a
48	chr1:151805661-151805711	NHDF-neo	bronchial:	n/a
49	chr1:151813779-151813829	AG09319	gingival:	n/a
50	chr1:151812710-151812760	HRCEpiC	kidney:	n/a

(count:149 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:151686149..151687760-chr1:151781194..151783599,2	K562	blood:
2	chr1:151762442..151763132-chr1:151803278..151803837,2	MCF-7	breast:
3	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:
4	chr1:151801687..151803757-chr3:196651344..196653748,2	MCF-7	breast:
5	chr1:151567685..151569478-chr1:151820200..151821930,2	MCF-7	breast:
6	chr1:151763491..151766160-chr1:151779828..151782203,2	MCF-7	breast:
7	chr1:151761843..151763864-chr1:151779499..151782273,2	MCF-7	breast:
8	chr1:151789925..151792025-chr1:151796878..151798485,2	K562	blood:
9	chr1:151791300..151792118-chr18:74203868..74204679,2	HCT-116	colon:
10	chr1:151778487..151781437-chr1:151789485..151791157,2	K562	blood:
11	chr1:151804012..151806616-chr1:151810661..151813276,2	K562	blood:
12	chr1:151788480..151790038-chr1:151792565..151794088,2	K562	blood:
13	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
14	chr1:151665450..151666493-chr1:151808600..151809515,6	K562	blood:
15	chr1:151795588..151797929-chr1:151801830..151803659,3	MCF-7	breast:
16	chr1:151795588..151797929-chr1:151801830..151803659,3	MCF-7	breast:
17	chr1:151774281..151778666-chr1:151812036..151815315,4	MCF-7	breast:
18	chr1:151665244..151665843-chr1:151803006..151803905,2	MCF-7	breast:
19	chr1:151813948..151815543-chr1:151817095..151818600,2	K562	blood:
20	chr1:151712112..151713087-chr1:151808881..151809397,2	MCF-7	breast:
21	chr1:151510723..151515515-chr1:151802413..151805096,5	MCF-7	breast:
22	chr1:151782426..151784318-chr1:151786868..151789342,2	MCF-7	breast:
23	chr1:151535409..151537724-chr1:151807504..151809415,2	MCF-7	breast:
24	chr1:151731676..151737592-chr1:151803957..151806544,6	MCF-7	breast:
25	chr1:151665385..151666193-chr1:151808529..151809162,4	MCF-7	breast:
26	chr1:151789315..151792282-chr1:151793123..151796667,3	MCF-7	breast:
27	chr1:151707202..151708163-chr1:151808657..151809536,5	MCF-7	breast:
28	chr1:151808172..151808926-chr4:45206985..45207611,2	MCF-7	breast:
29	chr1:151797661..151799547-chr1:151812000..151814982,2	MCF-7	breast:
30	chr1:151795791..151798042-chr1:151801058..151802708,2	K562	blood:
31	chr1:151761172..151762786-chr1:151788164..151789988,2	MCF-7	breast:
32	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
33	chr1:151732397..151736165-chr1:151791391..151794287,3	MCF-7	breast:
34	chr1:151512189..151513812-chr1:151782717..151784930,2	MCF-7	breast:
35	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
36	chr1:151797506..151800180-chr1:152018704..152020909,2	MCF-7	breast:
37	chr1:151664163..151666022-chr1:151807533..151809053,2	MCF-7	breast:
38	chr1:151752426..151754254-chr1:151778758..151780979,2	K562	blood:
39	chr1:151811113..151814780-chr1:151962857..151966577,5	MCF-7	breast:
40	chr1:151729177..151730822-chr1:151791781..151793966,2	MCF-7	breast:
41	chr1:151506418..151509266-chr1:151811121..151813998,3	MCF-7	breast:
42	chr1:151789925..151792025-chr1:151796878..151798485,2	K562	blood:
43	chr1:151804012..151806616-chr1:151810661..151813276,2	K562	blood:
44	chr1:151774351..151777755-chr1:151779800..151782368,3	K562	blood:
45	chr1:151777634..151779857-chr1:151790173..151792393,2	MCF-7	breast:
46	chr1:151779832..151781359-chr1:151797431..151800112,2	MCF-7	breast:
47	chr1:151814545..151817210-chr1:151817754..151819395,2	K562	blood:
48	chr1:151517981..151521165-chr1:151811031..151814404,3	MCF-7	breast:
49	chr1:151737845..151739446-chr1:151807835..151809474,2	MCF-7	breast:
50	chr1:151808934..151809634-chr1:151853928..151854568,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-2	chr1:151811539-151811581	NONHSAT006439
2	lnc-OAZ3-2	chr1:151814353-151814507	ENSG00000234614.1
3	lnc-OAZ3-2	chr1:151814088-151814507	NONHSAT006440
4	lnc-OAZ3-2	chr1:151816517-151816718	NONHSAT006443
5	lnc-OAZ3-2	chr1:151816521-151816718	NONHSAT006440
6	lnc-OAZ3-2	chr1:151816521-151816718	ENSG00000234614.1
7	lnc-OAZ3-2	chr1:151816491-151816718	NONHSAT006442

No data

Variant related genes	Relation type
C2CD4D	TF binding region
ENSG00000201134	TF binding region
LINGO4	TF binding region
ENSG00000234614	TF binding region
RORC	TF binding region
C2CD4D	CpG island
ENSG00000201134	CpG island
LINGO4	CpG island
ENSG00000234614	CpG island
RORC	CpG island
ENSG00000232937	chromatin interactions
ENSG00000225556	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000268288	chromatin interactions
ENSG00000201134	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000159377	chromatin interactions
ENSG00000143450	chromatin interactions
ENSG00000236940	chromatin interactions
ENSG00000142731	chromatin interactions
ENSG00000206980	chromatin interactions
ENSG00000224505	chromatin interactions
ENSG00000159445	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000234614	chromatin interactions
ENSG00000143436	chromatin interactions
ENSG00000213171	chromatin interactions
ENSG00000143365	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000203288	chromatin interactions
ENSG00000196407	chromatin interactions
ENSG00000159352	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000182134	chromatin interactions
ENSG00000269489	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000197747	chromatin interactions

Extended variants
information (count: 1606 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1606 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3828057	chr1:151780177-151780178	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566949620	chr1:151780256-151780257	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs535837313	chr1:151780262-151780263	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs190794217	chr1:151780301-151780302	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs576262787	chr1:151780335-151780336	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs181717179	chr1:151780352-151780353	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs558489700	chr1:151780354-151780355	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs143067015	chr1:151780391-151780392	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs540400353	chr1:151780414-151780415	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs566100740	chr1:151780451-151780452	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs187093506	chr1:151780471-151780472	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs151151893	chr1:151780484-151780485	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs374451013	chr1:151780496-151780497	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs543039821	chr1:151780544-151780545	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs191118695	chr1:151780591-151780592	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs531921621	chr1:151780613-151780614	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs182732781	chr1:151780625-151780626	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs1915544	chr1:151780652-151780653	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11588634	chr1:151780686-151780687	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11588258	chr1:151780728-151780729	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs185211780	chr1:151780777-151780778	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs140084015	chr1:151780784-151780785	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs549377279	chr1:151780790-151780791	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs539266523	chr1:151780836-151780837	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs557263789	chr1:151780845-151780846	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs538579150	chr1:151780858-151780859	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs189870940	chr1:151780880-151780881	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs565771666	chr1:151780919-151780920	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs575842497	chr1:151780945-151780946	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs543122980	chr1:151780971-151780972	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs555026246	chr1:151780993-151780994	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs199584948	chr1:151780998-151780999	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs368087695	chr1:151781001-151781002	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs56373696	chr1:151781021-151781022	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs534272562	chr1:151781186-151781187	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs547842125	chr1:151781199-151781200	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs1521178	chr1:151781244-151781245	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35342576	chr1:151781284-151781285	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs543103073	chr1:151781305-151781306	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs183253086	chr1:151781317-151781318	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs12567867	chr1:151781328-151781329	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs540169273	chr1:151781331-151781332	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs545404015	chr1:151781400-151781401	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs565555350	chr1:151781401-151781402	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs527929669	chr1:151781466-151781467	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs541231578	chr1:151781488-151781489	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs561108601	chr1:151781532-151781533	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs7551489	chr1:151781550-151781551	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549438368	chr1:151781586-151781587	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs569578891	chr1:151781594-151781595	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Pancreatic cancer	17952125	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1825 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151764200-151787000	Weak transcription	Right Ventricle	heart
2	chr1:151764200-151792800	Weak transcription	Lung	lung
3	chr1:151764600-151782000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:151764600-151787600	Weak transcription	Primary T cells from cord blood	blood
5	chr1:151765400-151784200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:151766000-151780200	Weak transcription	Dnd41	blood
7	chr1:151770800-151787200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:151773200-151784800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:151773400-151784800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:151773400-151785000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:151774600-151787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:151775800-151783600	Weak transcription	Psoas Muscle	Psoas
13	chr1:151776600-151787200	Weak transcription	Spleen	Spleen
14	chr1:151777800-151780200	Weak transcription	Brain Anterior Caudate	brain
15	chr1:151778000-151781800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:151778400-151786000	Strong transcription	Thymus	Thymus
17	chr1:151778400-151792800	Weak transcription	Left Ventricle	heart
18	chr1:151778600-151792000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:151778600-151802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:151778800-151782600	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:151778800-151789200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:151779000-151780200	Strong transcription	Fetal Thymus	thymus
23	chr1:151779000-151781600	Strong transcription	Pancreas	Pancrea
24	chr1:151779000-151787000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:151779200-151783800	Strong transcription	Liver	Liver
26	chr1:151779400-151780800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:151779400-151781200	Enhancers	Brain Substantia Nigra	brain
28	chr1:151779400-151783000	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:151779400-151784200	Enhancers	Brain Hippocampus Middle	brain
30	chr1:151779600-151780200	Strong transcription	Gastric	stomach
31	chr1:151779600-151780800	Enhancers	Brain Germinal Matrix	brain
32	chr1:151779600-151781200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:151779800-151780800	Enhancers	Brain Angular Gyrus	brain
34	chr1:151779800-151780800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:151779800-151781800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:151780000-151780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:151780000-151793400	Weak transcription	Stomach Mucosa	stomach
38	chr1:151780200-151780400	Genic enhancers	Fetal Thymus	thymus
39	chr1:151780200-151780800	Strong transcription	Dnd41	blood
40	chr1:151780200-151781200	Enhancers	Brain Anterior Caudate	brain
41	chr1:151780200-151785400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:151780200-151786800	Weak transcription	Gastric	stomach
43	chr1:151780400-151780600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:151780400-151780800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:151780400-151780800	Strong transcription	Fetal Thymus	thymus
46	chr1:151780600-151780800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:151780600-151780800	Enhancers	Adipose Nuclei	Adipose
48	chr1:151780600-151783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:151780800-151781000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:151780800-151781000	Genic enhancers	Fetal Thymus	thymus

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