Variant report

Variant	rs73383703
Chromosome Location	chr12:86217564-86217565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73381596	0.83[AFR][1000 genomes]
rs73383709	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7966491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
7	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86199800-86228200	Weak transcription	Left Ventricle	heart
2	chr12:86201800-86222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:86202600-86217600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:86208800-86219600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:86215800-86218200	Enhancers	HUVEC	blood vessel
6	chr12:86216000-86219800	Enhancers	Stomach Mucosa	stomach
7	chr12:86216200-86218000	Enhancers	A549	lung
8	chr12:86216200-86218800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:86216200-86219000	Weak transcription	Fetal Intestine Large	intestine
10	chr12:86216200-86219000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:86216200-86221200	Weak transcription	Fetal Kidney	kidney
12	chr12:86216800-86219000	Enhancers	NH-A	brain
13	chr12:86217000-86217600	Flanking Active TSS	Hela-S3	cervix
14	chr12:86217000-86217800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:86217000-86218000	Enhancers	HSMMtube	muscle
16	chr12:86217000-86218200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:86217000-86218600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:86217000-86219800	Weak transcription	Aorta	Aorta
19	chr12:86217000-86220200	Enhancers	HMEC	breast
20	chr12:86217200-86217800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:86217200-86218200	Enhancers	HSMM	muscle
22	chr12:86217200-86218200	Enhancers	NHDF-Ad	bronchial
23	chr12:86217200-86218200	Enhancers	NHEK	skin
24	chr12:86217200-86218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:86217400-86217600	Enhancers	Osteobl	bone
26	chr12:86217400-86218200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:86217400-86218400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:86217400-86218800	Weak transcription	Pancreas	Pancrea
29	chr12:86217400-86219800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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