Variant report

Variant	rs4713922
Chromosome Location	chr6:11793197-11793198
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11774413..11777289-chr6:11791782..11794607,2	MCF-7	breast:
2	chr6:11792260..11794049-chr6:11806162..11807776,2	K562	blood:

Variant related genes	Relation type
ENSG00000111863	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10947567	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11752110	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2142896	0.94[ASN][1000 genomes]
rs4711430	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs4711431	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4711432	0.96[CEU][hapmap]
rs4713925	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713926	0.92[CEU][hapmap];0.89[GIH][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4713927	0.96[CEU][hapmap]
rs9296163	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9462130	0.96[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv970076	chr6:11789794-11794413	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4713922	RNF182	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11790400-11793400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:11790400-11793400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:11790400-11793600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:11790600-11793600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:11790800-11793600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:11790800-11793600	Enhancers	HMEC	breast
7	chr6:11791200-11794000	Weak transcription	Fetal Intestine Small	intestine
8	chr6:11791600-11794400	Weak transcription	Placenta	Placenta
9	chr6:11791600-11795400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:11791800-11793200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:11791800-11803400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:11792000-11793200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:11792000-11794800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:11792000-11795000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:11792000-11795000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:11792000-11795200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:11792000-11795200	Weak transcription	NHEK	skin
18	chr6:11792000-11795400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:11792000-11804800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:11792800-11793200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:11792800-11793400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:11793000-11793400	ZNF genes & repeats	GM12878-XiMat	blood

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