Variant report

Variant	rs7943014
Chromosome Location	chr11:119529275-119529276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11603655	0.89[AMR][1000 genomes]
rs11603754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11604218	0.89[AMR][1000 genomes]
rs11605701	1.00[AMR][1000 genomes]
rs4938702	1.00[AMR][1000 genomes]
rs7130996	1.00[AMR][1000 genomes]
rs73571271	0.87[AMR][1000 genomes]
rs73571279	1.00[AMR][1000 genomes]
rs73571285	1.00[AMR][1000 genomes]
rs73571286	1.00[AMR][1000 genomes]
rs73571287	1.00[AMR][1000 genomes]
rs73573171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573188	0.89[AMR][1000 genomes]
rs7931981	0.89[AMR][1000 genomes]
rs7932236	0.89[AMR][1000 genomes]
rs7944707	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042460	chr11:119430954-119540452	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv898420	chr11:119488646-119541332	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119522800-119532400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:119523000-119529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:119523000-119532000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:119523200-119531200	Weak transcription	Pancreas	Pancrea
5	chr11:119523200-119534200	Weak transcription	Spleen	Spleen
6	chr11:119523200-119541800	Weak transcription	Left Ventricle	heart
7	chr11:119523600-119536200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:119525200-119530600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:119528000-119531200	Weak transcription	Fetal Intestine Small	intestine
10	chr11:119528600-119531800	Weak transcription	Esophagus	oesophagus
11	chr11:119528600-119534200	Weak transcription	NHEK	skin
12	chr11:119528600-119534600	Enhancers	Fetal Muscle Leg	muscle
13	chr11:119528800-119532200	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:119528800-119534400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:119528800-119534600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:119529000-119531400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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