Variant report

Variant	rs12565129
Chromosome Location	chr1:86087287-86087288
allele	A/C
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:12)

rs_ID	r²[population]
rs10791	0.81[JPT][hapmap]
rs12563476	1.00[AFR][1000 genomes]
rs12564057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12564468	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12566243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12566306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1360240	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17128012	0.89[ASN][1000 genomes]
rs17128092	0.93[JPT][hapmap]
rs17128152	0.82[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes]
rs17128155	0.81[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes]
rs3767161	0.82[CHB][hapmap]

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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86079200-86087800	Weak transcription	Left Ventricle	heart
2	chr1:86079200-86094400	Weak transcription	Pancreas	Pancrea
3	chr1:86082200-86087600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:86083800-86095200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:86083800-86103200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:86084400-86087800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:86084600-86092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:86085800-86093200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:86086200-86088600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:86086200-86088800	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr1:86086400-86088200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:86086400-86088400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:86086400-86088600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr1:86086600-86088200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr1:86086600-86088800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:86086800-86087400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
17	chr1:86086800-86088000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:86086800-86088200	ZNF genes & repeats	NHDF-Ad	bronchial
19	chr1:86087000-86087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:86087000-86088400	Weak transcription	Ovary	ovary
21	chr1:86087200-86087400	ZNF genes & repeats	Fetal Heart	heart
22	chr1:86087200-86089800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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