Variant report

Variant	rs4871072
Chromosome Location	chr8:121593187-121593188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10808513	0.90[CHB][hapmap];0.92[CHD][hapmap];0.83[TSI][hapmap];0.89[ASN][1000 genomes]
rs13264056	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13264768	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28415690	0.82[AMR][1000 genomes]
rs28561998	0.82[AMR][1000 genomes]
rs28716772	0.82[AMR][1000 genomes]
rs4870735	0.89[ASN][1000 genomes]
rs57854118	0.82[AMR][1000 genomes]
rs6469936	0.81[MEX][hapmap]
rs6981454	0.82[AMR][1000 genomes]
rs7008488	0.90[CHB][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs7824846	0.81[MEX][hapmap]
rs7845125	0.81[MEX][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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121557800-121597400	Weak transcription	Osteobl	bone
2	chr8:121560600-121597000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
4	chr8:121575600-121597000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:121581400-121593600	Strong transcription	HepG2	liver
6	chr8:121582800-121593200	Strong transcription	Liver	Liver
7	chr8:121583200-121597400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:121583200-121598200	Weak transcription	Spleen	Spleen
9	chr8:121585000-121601600	Weak transcription	Fetal Lung	lung
10	chr8:121586800-121597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:121587200-121596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:121587200-121597000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:121587200-121597600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
15	chr8:121587400-121596800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:121587400-121596800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:121587400-121597000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:121587400-121597000	Weak transcription	HSMMtube	muscle
19	chr8:121587400-121597200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:121587400-121597200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:121587400-121597600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:121587400-121600400	Weak transcription	Fetal Kidney	kidney
23	chr8:121587600-121594400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:121587600-121596800	Weak transcription	NHLF	lung
25	chr8:121587600-121597000	Weak transcription	Gastric	stomach
26	chr8:121587600-121597000	Weak transcription	Lung	lung
27	chr8:121587600-121600000	Weak transcription	Aorta	Aorta
28	chr8:121587800-121596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:121587800-121596800	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:121587800-121597000	Weak transcription	Adipose Nuclei	Adipose
31	chr8:121587800-121609200	Weak transcription	Fetal Stomach	stomach
32	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:121588200-121596800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:121588400-121596800	Weak transcription	NHDF-Ad	bronchial
37	chr8:121588400-121610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:121588600-121597000	Weak transcription	HSMM	muscle
39	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
40	chr8:121589200-121596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:121589400-121597600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:121589600-121598000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:121589600-121602200	Weak transcription	Primary T cells from cord blood	blood
44	chr8:121591000-121596800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:121591800-121596800	Weak transcription	Psoas Muscle	Psoas
46	chr8:121592200-121596800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:121592400-121593200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr8:121592400-121593200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:121592400-121593200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:121592600-121593200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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