Variant report

Variant	rs6931381
Chromosome Location	chr6:56115226-56115227
allele	A/G
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	KAP1	chr6:56115026-56115461	U2OS	brain:	n/a	n/a
2	EP300	chr6:56115158-56115405	SK-N-SH_RA	brain:	n/a	n/a
3	USF1	chr6:56115037-56115383	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr6:56115088-56115329	SK-N-SH_RA	brain:	n/a	n/a
5	USF2	chr6:56115207-56115409	H1-hESC	embryonic stem cell:	n/a	n/a
6	USF1	chr6:56115073-56115448	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56109021..56112703-chr6:56113048..56115800,3	MCF-7	breast:

Variant related genes	Relation type
COL21A1	TF binding region
ENSG00000124749	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12110798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1925140	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2147696	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2397211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2894834	0.85[ASN][1000 genomes]
rs4602722	0.85[CEU][hapmap]
rs60407790	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62411896	0.90[ASN][1000 genomes]
rs6459141	0.90[ASN][1000 genomes]
rs6902532	0.90[ASN][1000 genomes]
rs6904902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6905216	0.90[ASN][1000 genomes]
rs6919257	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6920090	0.90[ASN][1000 genomes]
rs6923130	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6931235	0.90[ASN][1000 genomes]
rs7753541	0.90[ASN][1000 genomes]
rs7757732	0.90[ASN][1000 genomes]
rs7760380	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9296835	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9296837	0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs9396200	0.85[CEU][hapmap]
rs9396201	0.85[CEU][hapmap]
rs9464368	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9464370	0.90[ASN][1000 genomes]
rs9475643	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9475645	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9475647	0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs9475649	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56112800-56116600	Weak transcription	Psoas Muscle	Psoas
2	chr6:56113000-56120200	Weak transcription	Aorta	Aorta
3	chr6:56113200-56117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:56113400-56116600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:56113400-56116800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:56113400-56123800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:56113600-56117200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:56114800-56115400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:56115000-56115400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:56115200-56115400	Enhancers	Left Ventricle	heart
11	chr6:56115200-56115400	Enhancers	Lung	lung
12	chr6:56115200-56115400	ZNF genes & repeats	Pancreas	Pancrea
13	chr6:56115200-56115400	Enhancers	Rectal Smooth Muscle	rectum

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