Variant report

Variant	rs12505331
Chromosome Location	chr4:7163426-7163427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11932499	0.89[ASN][1000 genomes]
rs12507403	0.89[ASN][1000 genomes]
rs12511333	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs13149235	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13149246	0.85[AMR][1000 genomes]
rs4492004	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4689072	0.83[EUR][1000 genomes]
rs6816089	0.89[ASN][1000 genomes]
rs6846459	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs9291130	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs9637550	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv829850	chr4:7112509-7314016	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv461192	chr4:7153642-7197393	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv593559	chr4:7153642-7197393	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv461193	chr4:7154743-7197393	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv593560	chr4:7154743-7197393	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv461194	chr4:7154743-7219933	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv593561	chr4:7154743-7219933	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7105800-7176000	Weak transcription	Right Atrium	heart
2	chr4:7160600-7164800	Enhancers	Pancreas	Pancrea
3	chr4:7161000-7172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:7161400-7164000	Enhancers	Fetal Intestine Large	intestine
5	chr4:7161600-7163600	Enhancers	Liver	Liver
6	chr4:7161600-7163800	Enhancers	Fetal Stomach	stomach
7	chr4:7161600-7164000	Enhancers	Fetal Muscle Leg	muscle
8	chr4:7162200-7165000	Enhancers	Ovary	ovary
9	chr4:7162600-7163600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:7162600-7164400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:7162800-7164600	Enhancers	Fetal Brain Male	brain
12	chr4:7162800-7172800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:7163000-7163600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:7163000-7164200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:7163000-7164200	Enhancers	NH-A	brain
16	chr4:7163000-7168000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:7163200-7163600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:7163200-7164200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:7163200-7164200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:7163200-7164200	Enhancers	Osteobl	bone
21	chr4:7163400-7163800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:7163400-7164000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:7163400-7164200	Enhancers	Brain Angular Gyrus	brain
24	chr4:7163400-7164200	Enhancers	HepG2	liver
25	chr4:7163400-7167400	Weak transcription	Fetal Intestine Small	intestine

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