Variant report

Variant	rs4488069
Chromosome Location	chr1:85759013-85759014
allele	A/G
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: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12137293	1.00[AMR][1000 genomes]
rs6700749	1.00[AMR][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	chr1:85755800-85763200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:85756000-85759800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:85756000-85762800	Enhancers	NHEK	skin
13	chr1:85756200-85759800	Weak transcription	HUVEC	blood vessel
14	chr1:85756400-85762600	Weak transcription	Stomach Mucosa	stomach
15	chr1:85756600-85759200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:85756600-85759200	Weak transcription	Esophagus	oesophagus
17	chr1:85756600-85763200	Weak transcription	GM12878-XiMat	blood
18	chr1:85757000-85762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:85757400-85760600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:85757600-85760600	Weak transcription	Osteobl	bone
21	chr1:85757600-85760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:85757600-85760800	Weak transcription	NHDF-Ad	bronchial
23	chr1:85757800-85760000	Weak transcription	NH-A	brain
24	chr1:85757800-85760600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:85757800-85762400	Weak transcription	HSMM	muscle
26	chr1:85757800-85762600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:85758400-85759600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:85758400-85759800	Weak transcription	NHLF	lung
29	chr1:85758400-85760600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:85758400-85760800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:85758400-85761000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:85758600-85763000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:85759000-85763000	Enhancers	HMEC	breast

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