Variant report

Variant	rs71447521
Chromosome Location	chr12:8788785-8788786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10466796	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10505737	0.83[EUR][1000 genomes]
rs11046380	1.00[ASN][1000 genomes]
rs11046393	1.00[ASN][1000 genomes]
rs11544165	0.84[EUR][1000 genomes]
rs12296100	1.00[ASN][1000 genomes]
rs12301158	0.84[EUR][1000 genomes]
rs12303273	1.00[ASN][1000 genomes]
rs12309445	0.87[EUR][1000 genomes]
rs12321016	0.84[EUR][1000 genomes]
rs12812305	0.84[EUR][1000 genomes]
rs12813004	0.84[EUR][1000 genomes]
rs12815849	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12821619	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12824576	1.00[ASN][1000 genomes]
rs12825998	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12826733	1.00[ASN][1000 genomes]
rs2289382	0.85[EUR][1000 genomes]
rs2289383	0.83[EUR][1000 genomes]
rs2289384	0.83[EUR][1000 genomes]
rs2289385	0.83[EUR][1000 genomes]
rs28386919	1.00[ASN][1000 genomes]
rs34033038	0.83[EUR][1000 genomes]
rs34079958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34799141	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34817631	1.00[ASN][1000 genomes]
rs34847713	1.00[EUR][1000 genomes]
rs35230480	0.83[EUR][1000 genomes]
rs35327409	0.83[EUR][1000 genomes]
rs35384062	1.00[ASN][1000 genomes]
rs35918490	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56776129	1.00[ASN][1000 genomes]
rs6487313	1.00[ASN][1000 genomes]
rs66552846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71447520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71447522	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71447523	0.87[EUR][1000 genomes]
rs71447524	0.85[EUR][1000 genomes]
rs71447525	0.85[EUR][1000 genomes]
rs73242785	1.00[ASN][1000 genomes]
rs73242788	1.00[ASN][1000 genomes]
rs73242789	1.00[ASN][1000 genomes]
rs73244411	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1048336	chr12:8663355-8797018	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv973017	chr12:8787931-8790231	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8783000-8795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:8783000-8797600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:8783400-8797200	Weak transcription	HSMMtube	muscle
4	chr12:8787400-8789200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:8787400-8790200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:8787800-8788800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:8787800-8790200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:8788000-8789600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:8788000-8798600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:8788200-8789000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:8788200-8789200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:8788200-8789200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:8788200-8789200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:8788200-8789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:8788200-8789200	Weak transcription	Esophagus	oesophagus
16	chr12:8788400-8788800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:8788400-8789000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:8788400-8789200	Weak transcription	NHEK	skin
19	chr12:8788400-8790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:8788600-8789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:8788600-8789000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:8788600-8789200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:8788600-8789200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:8788600-8789400	Enhancers	Placenta	Placenta

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