Variant report

Variant	rs2402581
Chromosome Location	chr7:121250594-121250595
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs60461337	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73429197	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73429198	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv608333	chr7:121132213-121379616	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2761362	chr7:121172202-121252112	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121245800-121250600	Weak transcription	Fetal Lung	lung
2	chr7:121248800-121250800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:121248800-121250800	Enhancers	Fetal Muscle Leg	muscle
4	chr7:121248800-121250800	Enhancers	HSMMtube	muscle
5	chr7:121249000-121250800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:121249000-121250800	Enhancers	NHEK	skin
7	chr7:121249000-121251600	Enhancers	Stomach Mucosa	stomach
8	chr7:121249000-121252200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:121249200-121264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:121249800-121250600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:121250000-121250800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:121250000-121250800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:121250200-121250800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:121250200-121251000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:121250400-121250800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:121250400-121250800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:121250400-121250800	Enhancers	Fetal Stomach	stomach
18	chr7:121250400-121250800	Enhancers	Pancreas	Pancrea
19	chr7:121250400-121250800	Enhancers	Right Atrium	heart
20	chr7:121250400-121250800	Enhancers	HSMM	muscle
21	chr7:121250400-121251000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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