Variant report

Variant	rs7486001
Chromosome Location	chr12:85667758-85667759
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11116761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11116766	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11116770	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11116772	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11116773	1.00[CEU][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11116774	0.93[EUR][1000 genomes]
rs11612337	1.00[CHB][hapmap]
rs11615246	1.00[CHB][hapmap]
rs12099841	0.89[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12311669	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319217	1.00[CEU][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320549	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13377687	0.80[CEU][hapmap];1.00[TSI][hapmap]
rs16897	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012672	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3847769	1.00[CHB][hapmap]
rs55900450	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73365747	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73365758	1.00[EUR][1000 genomes]
rs74111943	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74111944	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7485353	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485469	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs7488217	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961956	1.00[CHB][hapmap]
rs7980616	1.00[CHB][hapmap]
rs9651975	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1040452	chr12:85179586-85747907	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv899388	chr12:85427691-85766847	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1040622	chr12:85502226-85693132	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541558	chr12:85502226-85693132	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv559662	chr12:85544429-85734069	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv2761757	chr12:85626466-85741934	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv899392	chr12:85638089-85734069	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv533923	chr12:85647133-85713608	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	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
12	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85666800-85667800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:85666800-85667800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:85666800-85668000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
4	chr12:85666800-85668200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr12:85667000-85667800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:85667000-85667800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
7	chr12:85667000-85667800	Bivalent/Poised TSS	NHDF-Ad	bronchial
8	chr12:85667000-85668000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:85667000-85668000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:85667000-85668200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:85667000-85668200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:85667200-85667800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:85667200-85667800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:85667200-85667800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:85667200-85667800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:85667200-85667800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:85667200-85667800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:85667200-85667800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr12:85667200-85667800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr12:85667200-85668000	Bivalent/Poised TSS	Fetal Kidney	kidney
21	chr12:85667400-85667800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:85667400-85667800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
23	chr12:85667400-85667800	Bivalent Enhancer	Right Ventricle	heart
24	chr12:85667400-85668000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr12:85667600-85667800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:85667600-85667800	Bivalent Enhancer	NH-A	brain
27	chr12:85667600-85668000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr12:85667600-85668200	Bivalent/Poised TSS	Right Atrium	heart
29	chr12:85667600-85671800	Weak transcription	Spleen	Spleen

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