Variant report

Variant	rs12095675
Chromosome Location	chr1:85758324-85758325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85740717..85742523-chr1:85757083..85759331,2	K562	blood:

Variant related genes	Relation type
ENSG00000223653	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11161587	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12065528	0.82[ASN][1000 genomes]
rs12066982	0.82[ASN][1000 genomes]
rs12068389	0.82[ASN][1000 genomes]
rs12084232	0.82[ASN][1000 genomes]
rs12086970	0.82[ASN][1000 genomes]
rs12087340	0.82[ASN][1000 genomes]
rs12098111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12098220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35783363	0.82[ASN][1000 genomes]
rs6693229	0.82[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	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	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
3	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:85750000-85761400	Weak transcription	Lung	lung
5	chr1:85750000-85762800	Weak transcription	Pancreas	Pancrea
6	chr1:85750400-85762800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:85750800-85763800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:85752200-85762800	Weak transcription	Aorta	Aorta
9	chr1:85752400-85760600	Weak transcription	Fetal Stomach	stomach
10	chr1:85753600-85758400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:85753600-85758600	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:85754200-85758400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:85755000-85758400	Enhancers	NHLF	lung
14	chr1:85755800-85758400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:85755800-85763200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:85756000-85758600	Enhancers	HMEC	breast
17	chr1:85756000-85759800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:85756000-85762800	Enhancers	NHEK	skin
19	chr1:85756200-85759800	Weak transcription	HUVEC	blood vessel
20	chr1:85756400-85762600	Weak transcription	Stomach Mucosa	stomach
21	chr1:85756600-85759200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:85756600-85759200	Weak transcription	Esophagus	oesophagus
23	chr1:85756600-85763200	Weak transcription	GM12878-XiMat	blood
24	chr1:85757000-85762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:85757400-85760600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:85757600-85760600	Weak transcription	Osteobl	bone
27	chr1:85757600-85760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:85757600-85760800	Weak transcription	NHDF-Ad	bronchial
29	chr1:85757800-85760000	Weak transcription	NH-A	brain
30	chr1:85757800-85760600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:85757800-85762400	Weak transcription	HSMM	muscle
32	chr1:85757800-85762600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:85758200-85758400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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