Variant report

Variant	nsv895086
Chromosome Location	chr10:43731521-43767816
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	BHLHE40	chr10:43751338-43751539	K562	blood:	n/a	n/a
2	BHLHE40	chr10:43751373-43751579	GM12878	blood:	n/a	n/a
3	CEBPB	chr10:43742639-43742903	K562	blood:	n/a	chr10:43742769-43742780
4	CEBPB	chr10:43742253-43742334	K562	blood:	n/a	n/a
5	CEBPB	chr10:43742642-43742872	HepG2	liver:	n/a	chr10:43742769-43742780
6	CEBPB	chr10:43742646-43742953	IMR90	lung:	n/a	chr10:43742769-43742780
7	CHD2	chr10:43751345-43751554	GM12878	blood:	n/a	n/a
8	CHD2	chr10:43749888-43750148	GM12878	blood:	n/a	n/a
9	CTCF	chr10:43751726-43751778	Fibrobl	skin:	n/a	n/a
10	CTCF	chr10:43751326-43751614	NHEK	skin:	n/a	chr10:43751547-43751556
11	CTCF	chr10:43759080-43759230	GM12864	blood:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
12	CTCF	chr10:43753100-43753250	GM12871	blood:	n/a	n/a
13	CTCF	chr10:43759040-43759190	RPTEC	kidney:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
14	CTCF	chr10:43759000-43759150	GM12875	blood:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
15	CTCF	chr10:43759037-43759175	MCF-7	breast:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
16	CTCF	chr10:43759020-43759170	SK-N-SH_RA	brain:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
17	CTCF	chr10:43758892-43759250	H1-hESC	embryonic stem cell:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
18	CTCF	chr10:43751343-43751622	A549	lung:	n/a	chr10:43751547-43751556
19	CTCF	chr10:43761420-43761570	MCF-7	breast:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
20	CTCF	chr10:43761400-43761550	HRE	kidney:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
21	CTCF	chr10:43761460-43761610	K562	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
22	CTCF	chr10:43761420-43761570	WERI-Rb-1	eye:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
23	CTCF	chr10:43761410-43761604	Pancreas_OC	pancreas:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
24	CTCF	chr10:43761440-43761590	HepG2	liver:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
25	CTCF	chr10:43761292-43761668	H1-hESC	embryonic stem cell:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
26	CTCF	chr10:43758968-43759163	K562	blood:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
27	CTCF	chr10:43751400-43751550	GM12865	blood:	n/a	n/a
28	CTCF	chr10:43761415-43761597	HepG2	liver:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
29	CTCF	chr10:43751349-43751616	Fibrobl	skin:	n/a	chr10:43751547-43751556
30	CTCF	chr10:43751405-43751528	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr10:43761440-43761590	Hela-S3	cervix:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
32	CTCF	chr10:43759020-43759170	K562	blood:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
33	CTCF	chr10:43751420-43751570	GM12871	blood:	n/a	chr10:43751547-43751556
34	CTCF	chr10:43751400-43751550	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr10:43761437-43761561	GM12878	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
36	CTCF	chr10:43758681-43759376	A549	lung:	n/a	chr10:43759083-43759096 chr10:43758858-43758868 chr10:43759084-43759093
37	CTCF	chr10:43759068-43759135	LNCaP	prostate:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
38	CTCF	chr10:43761480-43761630	GM12864	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
39	CTCF	chr10:43751380-43751530	GM06990	blood:	n/a	n/a
40	CTCF	chr10:43761400-43761550	HFF	foreskin:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
41	CTCF	chr10:43759040-43759190	GM12870	blood:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
42	CTCF	chr10:43761335-43761614	HepG2	liver:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
43	CTCF	chr10:43758880-43759030	HCM	heart:	n/a	n/a
44	CTCF	chr10:43761420-43761570	SK-N-SH_RA	brain:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
45	CTCF	chr10:43759020-43759170	GM12871	blood:	n/a	chr10:43759083-43759096 chr10:43759084-43759093
46	CTCF	chr10:43761400-43761550	HPAF	blood vessel:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
47	CTCF	chr10:43751420-43751570	GM12875	blood:	n/a	chr10:43751547-43751556
48	CTCF	chr10:43751388-43751664	GM10248	blood:	n/a	chr10:43751547-43751556
49	CTCF	chr10:43750940-43751090	GM12873	blood:	n/a	n/a
50	CTCF	chr10:43758960-43759110	WERI-Rb-1	eye:	n/a	chr10:43759083-43759096 chr10:43759084-43759093

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43739117-43739167	GM06990	blood:	n/a
2	chr10:43739117-43739167	GM06990	blood:	n/a
3	chr10:43746736-43746786	AoSMC	blood vessel:	n/a
4	chr10:43746736-43746786	HEEpiC	esophagus:	n/a
5	chr10:43762670-43762720	HEK293	kidney:	embryo
6	chr10:43763042-43763092	HCF	heart:	n/a
7	chr10:43762670-43762720	HRE	kidney:	n/a
8	chr10:43762670-43762720	LNCaP	prostate:	n/a
9	chr10:43763042-43763092	SKMC	muscle:	n/a
10	chr10:43739117-43739167	NHBE	bronchial:	n/a
11	chr10:43739117-43739167	AoSMC	blood vessel:	n/a
12	chr10:43761841-43761891	HPAEpiC	pulmonary alveolar:	n/a
13	chr10:43739117-43739167	Caco-2	colon:	n/a
14	chr10:43762670-43762720	HCF	heart:	n/a
15	chr10:43763042-43763092	RPTEC	kidney:	n/a
16	chr10:43761841-43761891	SK-N-SH	brain:	n/a
17	chr10:43762680-43762730	T-47D	breast:	n/a
18	chr10:43739117-43739167	HMEC	breast:	n/a
19	chr10:43761841-43761891	HEK293	kidney:	embryo
20	chr10:43762680-43762730	HCT-116	colon:	n/a
21	chr10:43746736-43746786	A549	lung:	n/a
22	chr10:43739117-43739167	GM12891	blood:	n/a
23	chr10:43739117-43739167	Hela-S3	cervix:	n/a
24	chr10:43762670-43762720	HPAEpiC	pulmonary alveolar:	n/a
25	chr10:43746736-43746786	Hela-S3	cervix:	n/a
26	chr10:43763042-43763092	ProgFib	skin:	n/a
27	chr10:43763042-43763092	MCF10A-Er-Src	breast:	n/a
28	chr10:43762670-43762720	MCF10A-Er-Src	breast:	n/a
29	chr10:43762670-43762720	PFSK-1	brain:	n/a
30	chr10:43761841-43761891	NHDF-neo	bronchial:	n/a
31	chr10:43762680-43762730	H1-hESC	embryonic stem cell:	embryo
32	chr10:43763042-43763092	AG04449	skin:	fetal
33	chr10:43746736-43746786	HIPEpiC	eye:	n/a
34	chr10:43739117-43739167	HNPCEpiC	eye:	n/a
35	chr10:43762670-43762720	NB4	blood:	n/a
36	chr10:43761841-43761891	U87	brain:	n/a
37	chr10:43761841-43761891	ovcar-3	ovarian:	n/a
38	chr10:43762680-43762730	U87	brain:	n/a
39	chr10:43761841-43761891	HepG2	liver:	n/a
40	chr10:43761841-43761891	K562	blood:	n/a
41	chr10:43763042-43763092	BE2_C	brain:	n/a
42	chr10:43762680-43762730	HL-60	blood:	n/a
43	chr10:43762680-43762730	A549	lung:	n/a
44	chr10:43761841-43761891	SK-N-MC	brain:	n/a
45	chr10:43763042-43763092	HUVEC	blood vessel:	n/a
46	chr10:43739117-43739167	NH-A	brain:	n/a
47	chr10:43739117-43739167	PFSK-1	brain:	n/a
48	chr10:43762680-43762730	Hela-S3	cervix:	n/a
49	chr10:43763042-43763092	AG09319	gingival:	n/a
50	chr10:43761841-43761891	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43746969..43750119-chr10:43752543..43755778,3	K562	blood:
2	chr10:43746418..43748826-chr10:43749692..43752083,4	K562	blood:
3	chr10:43746978..43749423-chr10:43756169..43758679,2	K562	blood:
4	chr10:43746969..43750119-chr10:43752543..43755778,3	K562	blood:
5	chr10:43729621..43731654-chr10:43739921..43741494,2	MCF-7	breast:
6	chr10:43760886..43761922-chr10:43843561..43844509,10	MCF-7	breast:
7	chr10:43759900..43762026-chr10:43901535..43903337,2	MCF-7	breast:
8	chr10:43726760..43729695-chr10:43750265..43752104,2	MCF-7	breast:
9	chr10:43633206..43635379-chr10:43761035..43762686,2	MCF-7	breast:
10	chr10:43748329..43751092-chr10:43758387..43762104,3	MCF-7	breast:
11	chr10:43729621..43731654-chr10:43739921..43741494,2	MCF-7	breast:
12	chr10:43633619..43635410-chr10:43761017..43763266,2	MCF-7	breast:
13	chr10:43761240..43761910-chr10:43957026..43957545,2	MCF-7	breast:
14	chr10:43750917..43751578-chr10:43813067..43813837,2	K562	blood:
15	chr10:43700322..43701097-chr10:43750638..43751735,4	MCF-7	breast:
16	chr10:43745055..43746859-chr10:43757087..43758973,2	MCF-7	breast:
17	chr10:43746978..43749423-chr10:43756169..43758679,2	K562	blood:
18	chr10:43757038..43760449-chr10:43762640..43764974,3	K562	blood:
19	chr10:43629065..43631893-chr10:43754557..43757372,3	MCF-7	breast:
20	chr10:43623236..43626129-chr10:43750680..43753451,2	K562	blood:
21	chr10:43749536..43751095-chr10:43809193..43811814,2	K562	blood:
22	chr10:43600712..43601532-chr10:43751532..43752231,2	K562	blood:
23	chr10:43745055..43746859-chr10:43757087..43758973,2	MCF-7	breast:
24	chr10:43624629..43626379-chr10:43749891..43752180,2	K562	blood:
25	chr10:43749564..43751225-chr10:43756675..43758831,2	K562	blood:
26	chr10:43724977..43726823-chr10:43731228..43733575,2	MCF-7	breast:
27	chr10:43748329..43751092-chr10:43758387..43762104,3	MCF-7	breast:
28	chr10:43757038..43760449-chr10:43762640..43764974,3	K562	blood:
29	chr10:43716710..43720339-chr10:43755141..43758566,3	K562	blood:
30	chr10:43761779..43764546-chr10:43932522..43934779,2	K562	blood:
31	chr10:43700022..43701253-chr10:43750988..43751917,9	MCF-7	breast:
32	chr10:43750362..43752659-chr10:43753450..43755922,3	K562	blood:
33	chr10:43749564..43751225-chr10:43756675..43758831,2	K562	blood:
34	chr10:43741068..43743342-chr10:43744213..43745801,2	K562	blood:
35	chr10:43716570..43717454-chr10:43751032..43752428,7	MCF-7	breast:
36	chr10:43746418..43748826-chr10:43749692..43752083,4	K562	blood:
37	chr10:43665667..43666593-chr10:43751227..43751730,2	K562	blood:
38	chr10:43753888..43756103-chr10:43898148..43900430,2	K562	blood:
39	chr10:43741068..43743342-chr10:43744213..43745801,2	K562	blood:
40	chr10:43704701..43705317-chr10:43751108..43751738,2	MCF-7	breast:
41	chr10:43750362..43752659-chr10:43753450..43755922,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSGALNACT2-2	chr10:43758646-43758735	NONHSAT012948
2	lnc-CSGALNACT2-2	chr10:43759816-43759920	NONHSAT012948
3	lnc-CSGALNACT2-2	chr10:43759311-43759445	NONHSAT012948
4	lnc-CSGALNACT2-2	chr10:43754457-43755996	NONHSAT012948
5	lnc-CSGALNACT2-2	chr10:43758646-43758735	l_304_chr10:43724730-43729936_testes
6	lnc-CSGALNACT2-2	chr10:43759311-43759487	l_304_chr10:43724730-43729936_testes
7	lnc-CSGALNACT2-2	chr10:43756176-43756431	NONHSAT012948

Variant related genes	Relation type
RASGEF1A	TF binding region
RASGEF1A	CpG island
ENSG00000169813	chromatin interactions
ENSG00000169826	chromatin interactions
ENSG00000273008	chromatin interactions
ENSG00000243660	chromatin interactions
ENSG00000198915	chromatin interactions

Extended variants
information (count: 1540 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1540 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2503850	chr10:43731521-43731522	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370741026	chr10:43731529-43731530	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570030024	chr10:43731579-43731580	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538662315	chr10:43731601-43731602	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559157038	chr10:43731619-43731620	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76936114	chr10:43731620-43731621	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565570622	chr10:43731621-43731622	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139759112	chr10:43731637-43731638	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114021456	chr10:43731734-43731735	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76598547	chr10:43731748-43731749	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142004584	chr10:43731772-43731773	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146371154	chr10:43731829-43731830	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs115904389	chr10:43731830-43731831	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562307532	chr10:43731850-43731851	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139653824	chr10:43731868-43731869	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541896463	chr10:43731888-43731889	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560020836	chr10:43731893-43731894	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527253795	chr10:43731900-43731901	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144518324	chr10:43731901-43731902	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113655051	chr10:43731923-43731924	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs202037378	chr10:43731936-43731937	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113057844	chr10:43731940-43731941	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372634963	chr10:43731978-43731979	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572825622	chr10:43732003-43732004	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531507669	chr10:43732014-43732015	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549712148	chr10:43732017-43732018	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374842395	chr10:43732023-43732024	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535324082	chr10:43732031-43732032	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547847617	chr10:43732052-43732053	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566061313	chr10:43732118-43732119	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539808512	chr10:43732119-43732120	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1915144	chr10:43732129-43732130	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576760130	chr10:43732164-43732165	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148624685	chr10:43732217-43732218	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs72783242	chr10:43732225-43732226	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1915145	chr10:43732236-43732237	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541288943	chr10:43732250-43732251	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556653785	chr10:43732275-43732276	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142050791	chr10:43732320-43732321	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2505547	chr10:43732336-43732337	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373895619	chr10:43732375-43732376	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559347807	chr10:43732379-43732380	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531247294	chr10:43732385-43732386	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543685613	chr10:43732397-43732398	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561862264	chr10:43732432-43732433	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73257958	chr10:43732455-43732456	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547288702	chr10:43732461-43732462	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566123325	chr10:43732535-43732536	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533466665	chr10:43732546-43732547	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528358642	chr10:43732548-43732549	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43729200-43733200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:43731200-43731800	Enhancers	Spleen	Spleen
3	chr10:43731400-43732200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr10:43731600-43731800	Enhancers	Brain Anterior Caudate	brain
5	chr10:43731600-43731800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
6	chr10:43731800-43732000	Enhancers	Fetal Heart	heart
7	chr10:43731800-43732000	ZNF genes & repeats	Spleen	Spleen
8	chr10:43731800-43732800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr10:43732200-43732400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr10:43732400-43732600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr10:43733200-43733600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:43733600-43738000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:43738000-43739200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:43738000-43739200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:43739200-43744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:43743800-43755000	Weak transcription	Brain Angular Gyrus	brain
17	chr10:43744400-43745200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:43744600-43745000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:43744600-43751800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:43744600-43756200	Enhancers	Spleen	Spleen
21	chr10:43744800-43747800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr10:43745000-43745600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:43745000-43747400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:43745000-43747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:43745000-43748600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:43745000-43751800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr10:43745400-43745600	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:43745400-43746600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr10:43745400-43746600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:43745400-43746800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr10:43745400-43747200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr10:43745400-43747400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr10:43745600-43746000	Enhancers	Hela-S3	cervix
34	chr10:43745600-43746600	Enhancers	Brain Anterior Caudate	brain
35	chr10:43745600-43747000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr10:43745600-43747000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr10:43745600-43747200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr10:43745600-43747600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:43745800-43746000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr10:43745800-43746200	Enhancers	A549	lung
41	chr10:43745800-43747000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:43745800-43747000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr10:43746000-43746200	Enhancers	Placenta	Placenta
44	chr10:43746000-43746600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr10:43746000-43746600	Enhancers	Fetal Muscle Leg	muscle
46	chr10:43746000-43747200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr10:43746000-43750800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr10:43746200-43746400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr10:43746200-43746400	Bivalent Enhancer	Fetal Stomach	stomach
50	chr10:43746200-43746600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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