Variant report

Variant	nsv1003830
Chromosome Location	chr1:147193906-147312095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:683)
CpG islands
(count:1222)
Chromatin interactive
region (count:90)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:683 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:147280155-147280630	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:147287788-147287850	K562	blood:	n/a	n/a
3	ATF1	chr1:147293156-147293271	K562	blood:	n/a	n/a
4	ATF1	chr1:147283979-147283988	K562	blood:	n/a	n/a
5	ATF3	chr1:147280132-147280418	HepG2	liver:	n/a	n/a
6	BACH1	chr1:147309256-147309748	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:147305765-147305846	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr1:147311445-147311805	GM12878	blood:	n/a	n/a
9	BHLHE40	chr1:147280127-147280501	HepG2	liver:	n/a	n/a
10	BHLHE40	chr1:147280178-147280382	HepG2	liver:	n/a	n/a
11	BRCA1	chr1:147273148-147273197	Hela-S3	cervix:	n/a	chr1:147273166-147273173
12	CEBPB	chr1:147280112-147280723	MCF-7	breast:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
13	CEBPB	chr1:147259680-147259951	IMR90	lung:	n/a	n/a
14	CEBPB	chr1:147259655-147259937	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:147278481-147278496	HepG2	liver:	n/a	n/a
16	CEBPB	chr1:147229334-147229924	MCF-7	breast:	n/a	chr1:147229607-147229618
17	CEBPB	chr1:147280103-147280524	Hela-S3	cervix:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
18	CEBPB	chr1:147193738-147194358	MCF-7	breast:	n/a	n/a
19	CEBPB	chr1:147269626-147269645	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:147280134-147280507	H1-hESC	embryonic stem cell:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
21	CEBPB	chr1:147193938-147194130	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr1:147259630-147259998	MCF-7	breast:	n/a	n/a
23	CEBPB	chr1:147280136-147280454	K562	blood:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
24	CEBPB	chr1:147216542-147216757	HepG2	liver:	n/a	chr1:147216614-147216625
25	CEBPB	chr1:147279582-147279829	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:147229451-147229745	Hela-S3	cervix:	n/a	chr1:147229607-147229618
27	CEBPB	chr1:147277448-147277776	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:147280084-147280789	HepG2	liver:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
29	CEBPB	chr1:147193797-147194355	MCF-7	breast:	n/a	n/a
30	CEBPB	chr1:147280132-147280751	A549	lung:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
31	CEBPB	chr1:147247214-147247439	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr1:147193887-147194133	A549	lung:	n/a	n/a
33	CEBPB	chr1:147280100-147280410	HepG2	liver:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
34	CEBPB	chr1:147280158-147280664	IMR90	lung:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
35	CEBPB	chr1:147277511-147277661	HepG2	liver:	n/a	n/a
36	CEBPB	chr1:147280093-147280519	HepG2	liver:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
37	CEBPB	chr1:147229401-147229823	ECC-1	luminal epithelium:	n/a	chr1:147229607-147229618
38	CEBPB	chr1:147229299-147229827	MCF-7	breast:	n/a	chr1:147229607-147229618
39	CEBPB	chr1:147259715-147259949	A549	lung:	n/a	n/a
40	CEBPB	chr1:147193787-147194298	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr1:147229432-147229831	ECC-1	luminal epithelium:	n/a	chr1:147229607-147229618
42	CEBPB	chr1:147280141-147280538	HepG2	liver:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
43	CEBPB	chr1:147253715-147253880	HepG2	liver:	n/a	chr1:147253804-147253815 chr1:147253805-147253816
44	CEBPB	chr1:147259741-147259892	K562	blood:	n/a	n/a
45	CEBPB	chr1:147229457-147229747	HepG2	liver:	n/a	chr1:147229607-147229618
46	CEBPB	chr1:147280153-147280499	K562	blood:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
47	CEBPB	chr1:147216573-147216767	Hela-S3	cervix:	n/a	chr1:147216614-147216625
48	CEBPB	chr1:147193911-147194150	HepG2	liver:	n/a	n/a
49	CEBPD	chr1:147280137-147280442	HepG2	liver:	n/a	n/a
50	CEBPD	chr1:147280125-147280437	HepG2	liver:	n/a	n/a

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:147230209-147230259	GM12891	blood:	n/a
2	chr1:147246839-147246889	NB4	blood:	n/a
3	chr1:147230209-147230259	GM12891	blood:	n/a
4	chr1:147246839-147246889	NB4	blood:	n/a
5	chr1:147231061-147231111	HCT-116	colon:	n/a
6	chr1:147233743-147233793	ProgFib	skin:	n/a
7	chr1:147232608-147232658	Jurkat	blood:	n/a
8	chr1:147231524-147231574	HCPEpiC	choroid plexus:	n/a
9	chr1:147197536-147197586	K562	blood:	n/a
10	chr1:147246329-147246379	HCT-116	colon:	n/a
11	chr1:147230452-147230502	T-47D	breast:	n/a
12	chr1:147246839-147246889	NHBE	bronchial:	n/a
13	chr1:147231061-147231111	GM12892	blood:	n/a
14	chr1:147246154-147246204	HCPEpiC	choroid plexus:	n/a
15	chr1:147230209-147230259	HRCEpiC	kidney:	n/a
16	chr1:147309347-147309397	HCPEpiC	choroid plexus:	n/a
17	chr1:147309347-147309397	SK-N-SH	brain:	n/a
18	chr1:147253401-147253451	K562	blood:	n/a
19	chr1:147253401-147253451	BE2_C	brain:	n/a
20	chr1:147230209-147230259	GM12892	blood:	n/a
21	chr1:147230452-147230502	AG09309	skin:	n/a
22	chr1:147253401-147253451	GM12892	blood:	n/a
23	chr1:147197536-147197586	Hepatocyte	liver:	n/a
24	chr1:147231862-147231912	HRCEpiC	kidney:	n/a
25	chr1:147197536-147197586	HEK293	kidney:	embryo
26	chr1:147231862-147231912	SAEC	small airway:	n/a
27	chr1:147231524-147231574	HEEpiC	esophagus:	n/a
28	chr1:147245626-147245676	HRPEpiC	eye:	n/a
29	chr1:147231862-147231912	Caco-2	colon:	n/a
30	chr1:147246839-147246889	NHDF-neo	bronchial:	n/a
31	chr1:147231862-147231912	ProgFib	skin:	n/a
32	chr1:147233887-147233937	T-47D	breast:	n/a
33	chr1:147230452-147230502	HEK293	kidney:	embryo
34	chr1:147245168-147245218	PrEC	prostate:	n/a
35	chr1:147233743-147233793	GM06990	blood:	n/a
36	chr1:147233738-147233788	AG04449	skin:	fetal
37	chr1:147246154-147246204	SAEC	small airway:	n/a
38	chr1:147245485-147245535	HCM	heart:	n/a
39	chr1:147233110-147233160	HRPEpiC	eye:	n/a
40	chr1:147233738-147233788	SK-N-SH	brain:	n/a
41	chr1:147233738-147233788	HAEpiC	amniotic membrane:	n/a
42	chr1:147233743-147233793	MCF10A-Er-Src	breast:	n/a
43	chr1:147233743-147233793	HRPEpiC	eye:	n/a
44	chr1:147233738-147233788	Hepatocyte	liver:	n/a
45	chr1:147232608-147232658	HRCEpiC	kidney:	n/a
46	chr1:147231524-147231574	PFSK-1	brain:	n/a
47	chr1:147230209-147230259	RPTEC	kidney:	n/a
48	chr1:147253401-147253451	Hepatocyte	liver:	n/a
49	chr1:147233887-147233937	U87	brain:	n/a
50	chr1:147231862-147231912	HCT-116	colon:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:147253982..147256046-chr1:147260183..147262374,2	K562	blood:
2	chr1:147218316..147222428-chr1:147225799..147230204,6	MCF-7	breast:
3	chr1:147258662..147261590-chr1:147270902..147273169,3	MCF-7	breast:
4	chr1:147232773..147235381-chr1:147235921..147238475,2	K562	blood:
5	chr1:147229847..147231847-chr1:147237550..147240548,2	MCF-7	breast:
6	chr1:147268842..147272094-chr1:147272923..147275545,3	K562	blood:
7	chr1:147272185..147274968-chr1:147288763..147290507,2	K562	blood:
8	chr1:147222785..147225486-chr1:147227739..147230874,3	MCF-7	breast:
9	chr1:147274506..147277076-chr1:147285425..147287009,2	K562	blood:
10	chr1:147224461..147227120-chr1:147242032..147244708,3	MCF-7	breast:
11	chr1:147208419..147212694-chr1:147216367..147220265,3	MCF-7	breast:
12	chr1:147141080..147150089-chr1:147182806..147195488,19	MCF-7	breast:
13	chr1:147240071..147242067-chr1:147245350..147247970,2	MCF-7	breast:
14	chr1:147187841..147191070-chr1:147191880..147194262,4	MCF-7	breast:
15	chr1:147195512..147196780-chr1:147364142..147365569,12	MCF-7	breast:
16	chr1:147252565..147254194-chr1:147257728..147259512,2	MCF-7	breast:
17	chr1:147287314..147288194-chr1:147312838..147313452,2	MCF-7	breast:
18	chr1:147254319..147256959-chr1:147257613..147260137,2	K562	blood:
19	chr1:147214667..147217419-chr1:147235402..147238099,2	MCF-7	breast:
20	chr1:147234187..147237058-chr1:147240099..147241730,2	MCF-7	breast:
21	chr1:147214667..147217419-chr1:147235402..147238099,2	MCF-7	breast:
22	chr1:147254319..147256959-chr1:147257613..147260137,2	K562	blood:
23	chr1:147195370..147197758-chr1:147352674..147354271,2	MCF-7	breast:
24	chr1:147222918..147226453-chr1:147226545..147230518,7	MCF-7	breast:
25	chr1:147229847..147231847-chr1:147237550..147240548,2	MCF-7	breast:
26	chr1:147189146..147191909-chr1:147192462..147194196,3	MCF-7	breast:
27	chr1:147245849..147248322-chr1:147252642..147255104,2	MCF-7	breast:
28	chr1:147268842..147272094-chr1:147272923..147275545,3	K562	blood:
29	chr1:147196156..147196754-chr1:147364745..147365855,4	K562	blood:
30	chr1:147306497..147308637-chr1:147308840..147310925,2	MCF-7	breast:
31	chr1:147218454..147220532-chr1:147233214..147234923,2	MCF-7	breast:
32	chr1:147245849..147248322-chr1:147252642..147255104,2	MCF-7	breast:
33	chr1:147195860..147197594-chr1:147201052..147203782,2	K562	blood:
34	chr1:147189303..147191696-chr1:147194595..147196173,2	MCF-7	breast:
35	chr1:147194857..147197261-chr1:147362926..147365705,2	MCF-7	breast:
36	chr1:147209469..147211828-chr1:147222916..147225569,2	MCF-7	breast:
37	chr1:147194962..147196746-chr1:147362023..147363000,13	MCF-7	breast:
38	chr1:147212472..147214713-chr1:147214718..147216268,2	MCF-7	breast:
39	chr1:147195260..147198617-chr1:147199229..147201930,3	MCF-7	breast:
40	chr1:147280614..147282894-chr1:147286254..147288918,3	K562	blood:
41	chr1:147218454..147220532-chr1:147233214..147234923,2	MCF-7	breast:
42	chr1:147258662..147261590-chr1:147270902..147273169,3	MCF-7	breast:
43	chr1:147209469..147211828-chr1:147222916..147225569,2	MCF-7	breast:
44	chr1:147194515..147197013-chr1:147361402..147365473,61	MCF-7	breast:
45	chr1:147208419..147212694-chr1:147216367..147220265,3	MCF-7	breast:
46	chr1:147195260..147198617-chr1:147199229..147201930,3	MCF-7	breast:
47	chr1:147259078..147261479-chr1:147266280..147268485,2	MCF-7	breast:
48	chr1:147212472..147214713-chr1:147214718..147216268,2	MCF-7	breast:
49	chr1:147243719..147246413-chr1:147246599..147248961,2	MCF-7	breast:
50	chr1:147276129..147278611-chr1:147279190..147281299,2	MCF-7	breast:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJA8-1	chr1:147249689-147249833	XLOC_000387
2	lnc-BCL9-4	chr1:147197029-147197201	ucscGeneNc_uc009wkw_1
3	lnc-GJA8-1	chr1:147260720-147261065	XLOC_000387
4	lnc-GJA5-2	chr1:147283214-147283468	XLOC_001007
5	lnc-GJA5-1	chr1:147209596-147209751	XLOC_001006
6	lnc-GJA5-2	chr1:147281915-147282433	XLOC_001007
7	lnc-GJA8-1	chr1:147264755-147267415	XLOC_000387
8	lnc-BCL9-2	chr1:147229426-147229879	ENSG00000234482.1
9	lnc-BCL9-4	chr1:147218961-147219678	ucscGeneNc_uc009wkw_1
10	lnc-BCL9-4	chr1:147199915-147199992	NONHSAT006043
11	lnc-BCL9-4	chr1:147217869-147218218	NONHSAT006041
12	lnc-GJA8-1	chr1:147249700-147249833	XLOC_000387
13	lnc-BCL9-4	chr1:147199410-147199544	ucscGeneNc_uc009wkw_1
14	lnc-BCL9-2	chr1:147230462-147230517	ENSG00000234482.1
15	lnc-BCL9-4	chr1:147199410-147199544	NONHSAT006041
16	lnc-BCL9-4	chr1:147199915-147199992	ucscGeneNc_uc009wkw_1
17	lnc-GJA5-1	chr1:147210816-147210939	XLOC_001006
18	lnc-BCL9-4	chr1:147199410-147199544	NONHSAT006043
19	lnc-BCL9-4	chr1:147199409-147199544	NONHSAT006044
20	lnc-BCL9-4	chr1:147199915-147200203	NONHSAT006044
21	lnc-BCL9-4	chr1:147194955-147195009	NONHSAT006043
22	lnc-BCL9-4	chr1:147194946-147195009	NONHSAT006041

No data

Variant related genes	Relation type
GJA5	TF binding region
ENSG00000223728	TF binding region
ENSG00000234190	TF binding region
ENSG00000234482	TF binding region
GJA5	CpG island
ENSG00000223728	CpG island
ENSG00000234190	CpG island
ENSG00000234482	CpG island
ENSG00000234482	chromatin interactions
ENSG00000234190	chromatin interactions
ENSG00000121634	chromatin interactions
ENSG00000223728	chromatin interactions
ENSG00000162836	chromatin interactions
ENSG00000143140	chromatin interactions
SOCS4	miRNA target sites
ARHGAP1	miRNA target sites

Extended variants
information (count: 3969 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:3969 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78272651	chr1:147193969-147193970	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11577892	chr1:147194005-147194006	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs148129456	chr1:147194036-147194037	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs587674403	chr1:147194073-147194074	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs587737324	chr1:147194083-147194084	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142017269	chr1:147194129-147194130	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115169408	chr1:147194143-147194144	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs587728870	chr1:147194204-147194205	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs587666468	chr1:147194211-147194212	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34066737	chr1:147194352-147194353	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs587628244	chr1:147194376-147194377	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs587681863	chr1:147194399-147194400	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183063123	chr1:147194460-147194461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs6668159	chr1:147194463-147194464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs587693146	chr1:147194464-147194465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78387613	chr1:147194467-147194468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150686251	chr1:147194468-147194469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587731760	chr1:147194488-147194489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587775488	chr1:147194501-147194502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368923187	chr1:147194514-147194515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs17160571	chr1:147194523-147194524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113815748	chr1:147194709-147194710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs587599592	chr1:147194733-147194734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs587680015	chr1:147194753-147194754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185104842	chr1:147194770-147194771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140745388	chr1:147194771-147194772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72997404	chr1:147194773-147194774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs587730462	chr1:147194777-147194778	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587605059	chr1:147194788-147194789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115159433	chr1:147194789-147194790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189883780	chr1:147194798-147194799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs17160573	chr1:147194814-147194815	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182851002	chr1:147194828-147194829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs587725862	chr1:147194936-147194937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372212093	chr1:147194972-147194973	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs587707339	chr1:147195007-147195008	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs114506789	chr1:147195139-147195140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587666266	chr1:147195142-147195143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376746602	chr1:147195171-147195172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs587723674	chr1:147195173-147195174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs587757213	chr1:147195174-147195175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs587649505	chr1:147195183-147195184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74125756	chr1:147195184-147195185	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144605271	chr1:147195288-147195289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs587647065	chr1:147195338-147195339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147494538	chr1:147195372-147195373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372494742	chr1:147195379-147195380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12025980	chr1:147195389-147195390	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139979420	chr1:147195425-147195426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs13374225	chr1:147195469-147195470	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:152)

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
small cell lung cancer	20016488	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	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	19286668	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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20369283	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Obesity	21131291	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Melanoma	21430779	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Neuroblastoma	19536264	CNVD
Pancreatic cancer	21811587	CNVD

Chromatin state (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147190200-147194200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:147190200-147198800	Weak transcription	Right Atrium	heart
3	chr1:147191000-147194800	Enhancers	Placenta	Placenta
4	chr1:147191600-147194200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:147192800-147194200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:147193000-147194200	Weak transcription	Esophagus	oesophagus
7	chr1:147193400-147194600	Enhancers	Hela-S3	cervix
8	chr1:147193600-147194200	Enhancers	NHEK	skin
9	chr1:147193600-147194600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:147193600-147194600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:147193600-147194600	Enhancers	HMEC	breast
12	chr1:147193800-147194000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:147193800-147194000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:147193800-147194200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:147193800-147194200	Enhancers	Pancreas	Pancrea
16	chr1:147193800-147194400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:147193800-147194400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:147193800-147194400	Enhancers	Adipose Nuclei	Adipose
19	chr1:147194000-147194200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:147194000-147194400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:147194000-147194600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:147194200-147194400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:147194200-147194400	Enhancers	Esophagus	oesophagus
24	chr1:147194200-147194400	Bivalent Enhancer	NHEK	skin
25	chr1:147194200-147194600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:147194200-147194600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:147194200-147194600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:147194200-147194600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr1:147194200-147194600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:147194200-147198200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:147194400-147194600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:147194600-147195800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:147194600-147196000	Weak transcription	Hela-S3	cervix
34	chr1:147194600-147196200	Weak transcription	HMEC	breast
35	chr1:147194600-147197400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:147194600-147197600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:147194600-147198200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:147195800-147196600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr1:147196000-147196600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr1:147196000-147196600	Enhancers	Hela-S3	cervix
41	chr1:147196200-147197000	Enhancers	HMEC	breast
42	chr1:147196400-147196600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:147196400-147196600	Enhancers	Placenta	Placenta
44	chr1:147196400-147197200	Enhancers	Fetal Heart	heart
45	chr1:147196600-147197800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:147196600-147198200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:147197200-147197600	Weak transcription	Fetal Heart	heart
48	chr1:147197600-147197800	Enhancers	Fetal Heart	heart
49	chr1:147197600-147199000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:147197800-147199000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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