Variant report

Variant	rs6656857
Chromosome Location	chr1:119846011-119846012
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119844182..119846397-chr1:119863723..119866323,2	K562	blood:
2	chr1:119843544..119846464-chr1:119854842..119856473,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10923797	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923798	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10923799	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12036875	0.80[EUR][1000 genomes]
rs12037207	0.81[EUR][1000 genomes]
rs12122400	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418023	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1418026	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17023394	0.81[EUR][1000 genomes]
rs2153738	0.92[JPT][hapmap]
rs2253989	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254005	0.81[ASN][1000 genomes]
rs2265075	0.81[ASN][1000 genomes]
rs2477888	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2487766	0.95[EUR][1000 genomes]
rs6658706	0.80[EUR][1000 genomes]
rs699771	0.92[JPT][hapmap]
rs72691149	0.81[EUR][1000 genomes]
rs72691153	0.81[EUR][1000 genomes]
rs72691158	0.80[EUR][1000 genomes]
rs7526517	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7528071	0.91[EUR][1000 genomes]
rs838512	0.85[JPT][hapmap]
rs838513	0.92[JPT][hapmap]
rs838514	0.92[JPT][hapmap]
rs838515	0.92[JPT][hapmap]
rs838516	0.92[JPT][hapmap]
rs838521	0.93[EUR][1000 genomes]
rs838527	0.92[JPT][hapmap]
rs866788	0.92[JPT][hapmap]

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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv547615	chr1:119828542-119875730	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv2761649	chr1:119840645-119925936	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119837000-119846200	Weak transcription	Liver	Liver
2	chr1:119838200-119846200	Weak transcription	HepG2	liver
3	chr1:119838400-119846200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:119844000-119846800	Enhancers	Fetal Brain Male	brain
5	chr1:119845600-119846400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:119845600-119846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:119845600-119846800	Enhancers	NHDF-Ad	bronchial
8	chr1:119845600-119847400	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:119845800-119846600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:119845800-119846600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:119846000-119846200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr1:119846000-119846600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:119846000-119846800	Enhancers	Fetal Muscle Leg	muscle
14	chr1:119846000-119847000	Enhancers	Fetal Stomach	stomach

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