Variant report

Variant	rs864238
Chromosome Location	chr3:112453213-112453214
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11917839	1.00[YRI][hapmap]
rs1249922	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1706450	1.00[AMR][1000 genomes]
rs2633967	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35907597	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs820538	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs820539	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:112452200-112453600	Enhancers	NHEK	skin
2	chr3:112452600-112453600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:112452600-112453800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:112452600-112453800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr3:112452600-112453800	Enhancers	HMEC	breast
6	chr3:112452600-112455400	Enhancers	A549	lung
7	chr3:112452800-112461200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:112453000-112453400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:112453000-112453800	Enhancers	Osteobl	bone
10	chr3:112453000-112454000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:112453000-112454000	Enhancers	NHDF-Ad	bronchial
12	chr3:112453000-112459800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:112453200-112453800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:112453200-112453800	Enhancers	HSMM	muscle
15	chr3:112453200-112453800	Enhancers	HSMMtube	muscle
16	chr3:112453200-112454000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:112453200-112454200	Enhancers	Placenta	Placenta
18	chr3:112453200-112455600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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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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