Variant report

Variant	rs764798
Chromosome Location	chr2:56976781-56976782
allele	A/C
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	RAD21	chr2:56976202-56976807	A549	lung:	n/a	chr2:56976494-56976501 chr2:56976484-56976503
2	CTCF	chr2:56976660-56976810	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr2:56976112-56977060	SK-N-SH	brain:	n/a	chr2:56976494-56976501 chr2:56976484-56976503
4	CTCF	chr2:56975808-56976853	A549	lung:	n/a	chr2:56976487-56976503 chr2:56976486-56976504 chr2:56976491-56976499 chr2:56976488-56976501 chr2:56976481-56976502
5	CTCF	chr2:56976226-56976820	HCT-116	colon:	n/a	chr2:56976487-56976503 chr2:56976486-56976504 chr2:56976491-56976499 chr2:56976488-56976501 chr2:56976481-56976502
6	CTCF	chr2:56976780-56976930	GM06990	blood:	n/a	n/a
7	CTCF	chr2:56976720-56976870	GM12875	blood:	n/a	n/a
8	CTCF	chr2:56976740-56976890	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr2:56976760-56976910	HMEC	breast:	n/a	n/a
10	SMC3	chr2:56975926-56976987	SK-N-SH	brain:	n/a	chr2:56976488-56976502
11	CTCF	chr2:56976760-56976910	GM12872	blood:	n/a	n/a
12	CTCF	chr2:56976760-56976910	HCM	heart:	n/a	n/a
13	RAD21	chr2:56976260-56976802	HCT-116	colon:	n/a	chr2:56976494-56976501 chr2:56976484-56976503
14	CTCF	chr2:56976319-56977050	SK-N-SH	brain:	n/a	chr2:56976487-56976503 chr2:56976486-56976504 chr2:56976491-56976499 chr2:56976488-56976501 chr2:56976481-56976502
15	CTCF	chr2:56976680-56976830	HA-sp	spinal cord:	n/a	n/a
16	CTCF	chr2:56976660-56976810	GM12864	blood:	n/a	n/a
17	RAD21	chr2:56976184-56976812	MCF-7	breast:	n/a	chr2:56976494-56976501 chr2:56976484-56976503
18	CTCF	chr2:56976720-56976870	HCFaa	heart:	n/a	n/a
19	CTCF	chr2:56976680-56976830	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56410661..56411329-chr2:56976031..56976883,5	MCF-7	breast:
2	chr2:56410374..56411316-chr2:56976212..56976966,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231570	TF binding region
ENSG00000055813	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10175703	0.85[AFR][1000 genomes]
rs10175921	0.81[AFR][1000 genomes]
rs1019426	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1019427	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779941	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11885280	0.85[AFR][1000 genomes]
rs11885371	0.85[AFR][1000 genomes]
rs11894249	0.85[AFR][1000 genomes]
rs13387012	0.81[AFR][1000 genomes]
rs13415063	0.85[AFR][1000 genomes]
rs1468998	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2042124	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2193813	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193815	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193816	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193817	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544314	0.91[EUR][1000 genomes]
rs2682838	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682839	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2682840	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2682841	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2682842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682844	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682846	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682847	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682848	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671295	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4672159	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6545594	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6729559	0.85[AFR][1000 genomes]
rs6730067	0.85[AFR][1000 genomes]
rs6758203	0.85[AFR][1000 genomes]
rs978566	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008859	chr2:56767452-57126026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv535726	chr2:56767452-57126026	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv582058	chr2:56892585-57016392	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582059	chr2:56892585-57175087	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535727	chr2:56895497-57059359	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1007347	chr2:56904928-57100439	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv582060	chr2:56941668-57137622	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56969000-56978600	Weak transcription	Aorta	Aorta
2	chr2:56976600-56976800	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links