Variant report

Variant	rs4711430
Chromosome Location	chr6:11793789-11793790
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10947567	0.88[ASN][1000 genomes]
rs10947579	0.83[YRI][hapmap]
rs11752110	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs16871833	0.83[YRI][hapmap]
rs2142896	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711431	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4713922	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs4713925	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs9296163	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11791200-11794000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:11791600-11794400	Weak transcription	Placenta	Placenta
3	chr6:11791600-11795400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:11791800-11803400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:11792000-11794800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:11792000-11795000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:11792000-11795000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:11792000-11795200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:11792000-11795200	Weak transcription	NHEK	skin
10	chr6:11792000-11795400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:11792000-11804800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:11793400-11795600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:11793400-11799000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:11793400-11803400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:11793400-11804800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:11793600-11798400	Weak transcription	HMEC	breast
17	chr6:11793600-11803400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:11793600-11804800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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