Variant report

Variant	rs72944690
Chromosome Location	chr1:86080699-86080700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86046590..86049403-chr1:86080225..86081824,2	K562	blood:
2	chr1:86041810..86044112-chr1:86078850..86081561,2	K562	blood:
3	chr1:86040063..86041996-chr1:86079149..86082023,2	K562	blood:
4	chr1:86046852..86049403-chr1:86080324..86084474,3	K562	blood:

Variant related genes	Relation type
ENSG00000153904	Chromatin interaction
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4949916	1.00[EUR][1000 genomes]
rs56017534	0.97[AFR][1000 genomes]
rs60603204	0.99[AFR][1000 genomes]
rs72944684	0.94[AFR][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	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86073200-86082200	Weak transcription	Aorta	Aorta
3	chr1:86074200-86081200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:86077000-86083000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:86077800-86081800	Weak transcription	Right Atrium	heart
6	chr1:86078800-86081200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:86078800-86081600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:86079000-86081200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:86079000-86081200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:86079000-86081800	Weak transcription	Ovary	ovary
11	chr1:86079000-86081800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:86079000-86082200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:86079200-86081000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:86079200-86081000	Weak transcription	Fetal Intestine Small	intestine
15	chr1:86079200-86081200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:86079200-86081200	Weak transcription	Placenta	Placenta
17	chr1:86079200-86082400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:86079200-86085200	Weak transcription	Hela-S3	cervix
19	chr1:86079200-86086400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:86079200-86087800	Weak transcription	Left Ventricle	heart
21	chr1:86079200-86094400	Weak transcription	Pancreas	Pancrea
22	chr1:86079400-86080800	Weak transcription	Fetal Lung	lung
23	chr1:86079400-86081400	Weak transcription	Fetal Heart	heart
24	chr1:86079400-86081600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:86079400-86081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:86079400-86082800	Weak transcription	A549	lung
27	chr1:86079400-86083000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:86079400-86084200	Enhancers	NHDF-Ad	bronchial
29	chr1:86079600-86081000	Weak transcription	NH-A	brain
30	chr1:86079600-86082600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:86079600-86082600	Weak transcription	HSMMtube	muscle
32	chr1:86079600-86083000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:86079600-86083000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:86079600-86083000	Weak transcription	HSMM	muscle
35	chr1:86080200-86082000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:86080200-86082400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:86080200-86083000	Weak transcription	NHLF	lung
38	chr1:86080200-86083000	Weak transcription	Osteobl	bone
39	chr1:86080600-86082600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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