Variant report

Variant	rs61902504
Chromosome Location	chr11:56523000-56523001
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	POLR2A	chr11:56522794-56523582	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:56522756-56523329	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:56522703-56523600	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:56522998-56523614	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:56522718-56523027	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:56522797-56523322	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:56522732-56523383	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:56522739-56523014	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:56522701-56523441	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
OR9G2P	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10501358	0.80[EUR][1000 genomes]
rs17548700	1.00[AFR][1000 genomes]
rs17549606	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17559037	0.80[EUR][1000 genomes]
rs17559185	0.82[EUR][1000 genomes]
rs17559600	0.80[EUR][1000 genomes]
rs17640103	0.82[EUR][1000 genomes]
rs55815178	0.82[EUR][1000 genomes]
rs55874240	1.00[AFR][1000 genomes]
rs61889065	0.83[EUR][1000 genomes]
rs61889069	0.82[EUR][1000 genomes]
rs61889071	0.80[EUR][1000 genomes]
rs61889072	0.80[EUR][1000 genomes]
rs61889073	0.80[EUR][1000 genomes]
rs61889075	0.80[EUR][1000 genomes]
rs61889076	0.80[EUR][1000 genomes]
rs61889078	0.80[EUR][1000 genomes]
rs61889108	0.80[EUR][1000 genomes]
rs61902203	1.00[AFR][1000 genomes]
rs61902209	1.00[AFR][1000 genomes]
rs61902501	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61902503	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61902517	0.90[EUR][1000 genomes]
rs61902556	0.83[EUR][1000 genomes]
rs61903268	1.00[AFR][1000 genomes]
rs61903273	1.00[AFR][1000 genomes]
rs61903306	1.00[AFR][1000 genomes]
rs61903313	1.00[AFR][1000 genomes]
rs61903347	1.00[AFR][1000 genomes]
rs61903997	0.80[EUR][1000 genomes]
rs61904562	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61904563	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61904564	1.00[AFR][1000 genomes]
rs61904565	1.00[AFR][1000 genomes]
rs61904579	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61904584	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61904586	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61904587	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6591380	1.00[AFR][1000 genomes]
rs7107067	0.80[EUR][1000 genomes]
rs7122752	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497854	chr11:55917298-56537994	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
2	nsv949349	chr11:56371633-56593610	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051853	chr11:56393347-56523720	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1048328	chr11:56471984-56649908	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	esv2830406	chr11:56481955-56650124	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv468577	chr11:56503728-56704042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv555101	chr11:56503728-56704042	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv983231	chr11:56516214-56543432	Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases
9	nsv975186	chr11:56522592-56524278	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56520400-56524600	Weak transcription	Dnd41	blood
2	chr11:56521800-56523600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:56522000-56523600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:56522400-56523400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:56522600-56523000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:56522800-56523000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr11:56522800-56523200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:56523000-56523600	Weak transcription	H1 Cell Line	embryonic stem cell

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