Variant report

Variant	esv3325362
Chromosome Location	chr10:43761321-43763744
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	CTCF	chr10:43761432-43761579	LNCaP	prostate:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
2	CTCF	chr10:43761400-43761581	LNCaP	prostate:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
3	CTCF	chr10:43761420-43761570	HAc	cerebellar:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
4	CTCF	chr10:43761460-43761610	HCPEpiC	choroid plexus:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
5	CTCF	chr10:43761400-43761550	HBMEC	blood vessel:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
6	CTCF	chr10:43761366-43761612	H1-hESC	embryonic stem cell:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
7	CTCF	chr10:43761191-43761791	MCF-7	breast:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
8	CTCF	chr10:43761453-43761527	GM19240	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
9	CTCF	chr10:43761420-43761570	HEEpiC	esophagus:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
10	CTCF	chr10:43761420-43761570	HCPEpiC	choroid plexus:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
11	CTCF	chr10:43761440-43761590	BJ	skin:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
12	CTCF	chr10:43761399-43761577	Gliobla	brain:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
13	CTCF	chr10:43761400-43761550	GM12866	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
14	CTCF	chr10:43761360-43761680	K562	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
15	CTCF	chr10:43761300-43761450	GM12869	blood:	n/a	n/a
16	CTCF	chr10:43761292-43761668	H1-hESC	embryonic stem cell:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
17	CTCF	chr10:43761440-43761590	Hela-S3	cervix:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
18	CTCF	chr10:43761400-43761550	HRE	kidney:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
19	CTCF	chr10:43761400-43761550	HMEC	breast:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
20	CTCF	chr10:43761440-43761590	AG09319	gingival:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
21	CTCF	chr10:43761380-43761530	GM12865	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
22	CTCF	chr10:43761420-43761570	SAEC	small airway:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
23	CTCF	chr10:43761449-43761531	GM12892	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
24	CTCF	chr10:43761360-43761510	HL-60	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
25	CTCF	chr10:43761420-43761570	HRE	kidney:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
26	CTCF	chr10:43761440-43761590	RPTEC	kidney:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
27	CTCF	chr10:43761437-43761573	Lung_OC	lung:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
28	CTCF	chr10:43761305-43761589	T-47D	breast:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
29	CTCF	chr10:43761380-43761530	GM12866	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
30	CTCF	chr10:43761400-43761550	GM12867	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
31	CTCF	chr10:43761246-43761767	HCT-116	colon:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
32	CTCF	chr10:43761323-43761693	MCF-7	breast:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
33	CTCF	chr10:43761400-43761550	SK-N-SH_RA	brain:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
34	CTCF	chr10:43761368-43761591	GM12878	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
35	CTCF	chr10:43761360-43761510	HUVEC	blood vessel:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
36	CTCF	chr10:43761440-43761590	HRPEpiC	eye:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
37	CTCF	chr10:43761335-43761614	HepG2	liver:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
38	CTCF	chr10:43761460-43761610	HFF-Myc	foreskin:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
39	CTCF	chr10:43761380-43761530	HPAF	blood vessel:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
40	CTCF	chr10:43761440-43761590	HMEC	breast:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
41	CTCF	chr10:43761400-43761550	AG09309	skin:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
42	CTCF	chr10:43761614-43761617	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr10:43761460-43761610	HepG2	liver:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
44	CTCF	chr10:43761407-43761601	K562	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
45	CTCF	chr10:43761380-43761530	GM12873	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
46	CTCF	chr10:43761353-43761643	MCF-7	breast:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
47	CTCF	chr10:43761580-43761730	AG09309	skin:	n/a	n/a
48	CTCF	chr10:43761440-43761590	HepG2	liver:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
49	CTCF	chr10:43761356-43761707	H1-hESC	embryonic stem cell:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503
50	CTCF	chr10:43761380-43761530	GM12874	blood:	n/a	chr10:43761485-43761503 chr10:43761491-43761500 chr10:43761487-43761500 chr10:43761490-43761503

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43762670-43762720	HNPCEpiC	eye:	n/a
2	chr10:43761841-43761891	HNPCEpiC	eye:	n/a
3	chr10:43762670-43762720	PANC-1	pancreas:	n/a
4	chr10:43761841-43761891	U87	brain:	n/a
5	chr10:43762670-43762720	HUVEC	blood vessel:	n/a
6	chr10:43762680-43762730	NT2-D1	testis:	n/a
7	chr10:43762680-43762730	NHBE	bronchial:	n/a
8	chr10:43761841-43761891	NH-A	brain:	n/a
9	chr10:43761841-43761891	NHDF-neo	bronchial:	n/a
10	chr10:43762680-43762730	HAEpiC	amniotic membrane:	n/a
11	chr10:43761841-43761891	GM19239	blood:	n/a
12	chr10:43761841-43761891	ovcar-3	ovarian:	n/a
13	chr10:43761841-43761891	SK-N-SH_RA	brain:	n/a
14	chr10:43762680-43762730	A549	lung:	n/a
15	chr10:43762670-43762720	SAEC	small airway:	n/a
16	chr10:43763042-43763092	SAEC	small airway:	n/a
17	chr10:43761841-43761891	T-47D	breast:	n/a
18	chr10:43762680-43762730	HRE	kidney:	n/a
19	chr10:43762670-43762720	ovcar-3	ovarian:	n/a
20	chr10:43761841-43761891	HMEC	breast:	n/a
21	chr10:43763042-43763092	SKMC	muscle:	n/a
22	chr10:43762680-43762730	CMK	blood:	n/a
23	chr10:43762670-43762720	AoSMC	blood vessel:	n/a
24	chr10:43762670-43762720	AG04450	lung:	fetal
25	chr10:43762680-43762730	SAEC	small airway:	n/a
26	chr10:43761841-43761891	A549	lung:	n/a
27	chr10:43763042-43763092	PFSK-1	brain:	n/a
28	chr10:43762670-43762720	SK-N-MC	brain:	n/a
29	chr10:43762670-43762720	SK-N-SH	brain:	n/a
30	chr10:43761841-43761891	HIPEpiC	eye:	n/a
31	chr10:43761841-43761891	HCM	heart:	n/a
32	chr10:43761841-43761891	CMK	blood:	n/a
33	chr10:43763042-43763092	HUVEC	blood vessel:	n/a
34	chr10:43762680-43762730	MCF10A-Er-Src	breast:	n/a
35	chr10:43762670-43762720	U87	brain:	n/a
36	chr10:43762670-43762720	HMEC	breast:	n/a
37	chr10:43762670-43762720	NB4	blood:	n/a
38	chr10:43761841-43761891	HPAEpiC	pulmonary alveolar:	n/a
39	chr10:43761841-43761891	RPTEC	kidney:	n/a
40	chr10:43763042-43763092	HEK293	kidney:	embryo
41	chr10:43761841-43761891	Hepatocyte	liver:	n/a
42	chr10:43763042-43763092	ECC-1	luminal epithelium:	n/a
43	chr10:43762670-43762720	HCT-116	colon:	n/a
44	chr10:43761841-43761891	HCT-116	colon:	n/a
45	chr10:43762680-43762730	T-47D	breast:	n/a
46	chr10:43762680-43762730	SK-N-MC	brain:	n/a
47	chr10:43762680-43762730	HRPEpiC	eye:	n/a
48	chr10:43762680-43762730	AG09319	gingival:	n/a
49	chr10:43762670-43762720	ECC-1	luminal epithelium:	n/a
50	chr10:43763042-43763092	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43633619..43635410-chr10:43761017..43763266,2	MCF-7	breast:
2	chr10:43757038..43760449-chr10:43762640..43764974,3	K562	blood:
3	chr10:43633206..43635379-chr10:43761035..43762686,2	MCF-7	breast:
4	chr10:43761779..43764546-chr10:43932522..43934779,2	K562	blood:
5	chr10:43759900..43762026-chr10:43901535..43903337,2	MCF-7	breast:
6	chr10:43761240..43761910-chr10:43957026..43957545,2	MCF-7	breast:
7	chr10:43760886..43761922-chr10:43843561..43844509,10	MCF-7	breast:
8	chr10:43748329..43751092-chr10:43758387..43762104,3	MCF-7	breast:

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

Extended variants
information (count: 66 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7900769	chr10:43761347-43761348	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72783256	chr10:43761360-43761361	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538390721	chr10:43761370-43761371	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs556897335	chr10:43761384-43761385	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs574907128	chr10:43761398-43761399	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs372022033	chr10:43761409-43761410	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs74774508	chr10:43761411-43761412	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs61845702	chr10:43761428-43761429	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553599355	chr10:43761437-43761438	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs554443637	chr10:43761452-43761453	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs572993174	chr10:43761490-43761491	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs535579582	chr10:43761508-43761509	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs572845004	chr10:43761550-43761551	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs540029183	chr10:43761572-43761573	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs7913789	chr10:43761574-43761575	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs72783257	chr10:43761629-43761630	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544400013	chr10:43761630-43761631	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562867213	chr10:43761672-43761673	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs376255130	chr10:43761694-43761695	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs566434976	chr10:43761695-43761696	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs548854116	chr10:43761750-43761751	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs112501789	chr10:43761779-43761780	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs564627389	chr10:43761810-43761811	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs528034711	chr10:43761861-43761862	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs552724135	chr10:43761883-43761884	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs570986919	chr10:43761885-43761886	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs369703598	chr10:43761934-43761935	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs11238496	chr10:43761939-43761940	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113935289	chr10:43761958-43761959	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs11238497	chr10:43762385-43762386	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs568465043	chr10:43762558-43762559	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs193125904	chr10:43762703-43762704	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs554184086	chr10:43762735-43762736	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs572785511	chr10:43762740-43762741	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs372476686	chr10:43762746-43762747	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs533869977	chr10:43762792-43762793	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs558689846	chr10:43762846-43762847	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs576981668	chr10:43762907-43762908	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs78199679	chr10:43762908-43762909	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs562845083	chr10:43762915-43762916	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs372905811	chr10:43762934-43762935	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs575034386	chr10:43762949-43762950	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs2900651	chr10:43762973-43762974	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577569746	chr10:43762982-43762983	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs577597159	chr10:43763001-43763002	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs560508362	chr10:43763037-43763038	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs77223446	chr10:43763038-43763039	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs535139393	chr10:43763067-43763068	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs77808063	chr10:43763124-43763125	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs142914879	chr10:43763176-43763177	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	3 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:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43750800-43761600	Weak transcription	Right Atrium	heart
2	chr10:43759600-43762000	Active TSS	Brain Anterior Caudate	brain
3	chr10:43759800-43762000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr10:43760000-43761400	Enhancers	A549	lung
5	chr10:43760000-43761800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:43760200-43761600	Bivalent Enhancer	Brain Substantia Nigra	brain
7	chr10:43760200-43762000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr10:43760200-43762000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
9	chr10:43760400-43761400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr10:43760400-43761600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:43760400-43761600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr10:43760600-43761400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr10:43760600-43761400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:43760600-43761400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr10:43760600-43761400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr10:43760600-43761600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr10:43760600-43761600	Enhancers	Pancreas	Pancrea
18	chr10:43760600-43761800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr10:43760600-43761800	Bivalent Enhancer	Esophagus	oesophagus
20	chr10:43760800-43761800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:43761000-43761400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:43761000-43761400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:43761000-43761800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:43761000-43762000	Bivalent Enhancer	Fetal Brain Male	brain
25	chr10:43761000-43762800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr10:43761200-43761400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr10:43761200-43761400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr10:43761200-43761400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:43761200-43761400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr10:43761200-43761400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr10:43761200-43761400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:43761200-43761400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:43761200-43761400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
34	chr10:43761200-43761400	Bivalent Enhancer	Right Ventricle	heart
35	chr10:43761200-43761400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
36	chr10:43761200-43761600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr10:43761200-43761600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr10:43761200-43761600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:43761200-43761600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
40	chr10:43761200-43761600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
41	chr10:43761200-43761600	Bivalent Enhancer	Lung	lung
42	chr10:43761200-43761800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr10:43761200-43762000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
44	chr10:43761200-43762800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr10:43761200-43762800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr10:43761400-43761600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
47	chr10:43761400-43761600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
48	chr10:43761400-43761600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr10:43761400-43761600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
50	chr10:43761400-43761600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood

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