Variant report

Variant	rs12712511
Chromosome Location	chr2:36841318-36841319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1548894	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs3770785	0.80[CEU][hapmap]
rs6544014	0.83[EUR][1000 genomes]
rs744917	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7577490	0.85[EUR][1000 genomes]
rs7580827	0.84[EUR][1000 genomes]
rs918066	0.84[EUR][1000 genomes]
rs918068	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs9941555	0.80[CEU][hapmap]
rs9967785	0.86[EUR][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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv2681	chr2:36822990-36848171	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36835400-36842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:36835800-36842000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:36837000-36841600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:36838600-36842200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:36840200-36841400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:36840600-36841800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:36840800-36842800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:36841000-36842000	Enhancers	Adipose Nuclei	Adipose
9	chr2:36841200-36841400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:36841200-36841400	Enhancers	Fetal Lung	lung
11	chr2:36841200-36841600	Enhancers	Fetal Kidney	kidney
12	chr2:36841200-36841600	Enhancers	Gastric	stomach
13	chr2:36841200-36842600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:36841200-36842800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:36841200-36843000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:36841200-36843000	Enhancers	Osteobl	bone
17	chr2:36841200-36843200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:36841200-36844200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:36841200-36845200	Enhancers	Placenta	Placenta

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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