Variant report

Variant	rs7839488
Chromosome Location	chr8:121562418-121562419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10098051	0.86[ASN][1000 genomes]
rs10216544	0.89[ASN][1000 genomes]
rs11786460	0.84[JPT][hapmap]
rs11786755	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11993763	0.87[MEX][hapmap]
rs13253450	0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs13265960	0.92[MEX][hapmap]
rs4395927	0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs4455882	0.91[CHD][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap]
rs4582605	0.87[MEX][hapmap]
rs4644306	0.88[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.89[ASN][1000 genomes]
rs6469937	0.87[MEX][hapmap]
rs6984991	0.81[GIH][hapmap];0.92[MEX][hapmap]
rs6999061	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7460062	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	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
4	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

Variant related diseases (count:1)

Disease	PMID	Source
Myopia (pathological)	23406873	GWAS catalog

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121503200-121563000	Weak transcription	Esophagus	oesophagus
2	chr8:121527800-121581600	Weak transcription	Spleen	Spleen
3	chr8:121529000-121563600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:121530400-121563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:121536400-121562800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:121536400-121574600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:121542800-121563800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:121543000-121565200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:121543600-121562800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:121548000-121570200	Strong transcription	Liver	Liver
11	chr8:121548200-121563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:121549200-121562800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:121549400-121563600	Strong transcription	HepG2	liver
14	chr8:121549800-121562600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:121551000-121565400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:121551400-121562800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:121551800-121565200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:121552000-121565400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:121553200-121574200	Weak transcription	Psoas Muscle	Psoas
20	chr8:121553200-121574800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:121556200-121586400	Weak transcription	Fetal Intestine Small	intestine
22	chr8:121557800-121597400	Weak transcription	Osteobl	bone
23	chr8:121558000-121569600	Weak transcription	Left Ventricle	heart
24	chr8:121558200-121562600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr8:121558200-121563000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:121558200-121574400	Weak transcription	NHDF-Ad	bronchial
27	chr8:121560400-121563200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:121560400-121586800	Weak transcription	Fetal Stomach	stomach
29	chr8:121560600-121597000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:121560800-121568800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:121561000-121591600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:121561200-121562800	Weak transcription	Placenta	Placenta
33	chr8:121561200-121562800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:121561200-121563000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:121561200-121563000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:121561200-121569400	Weak transcription	Adipose Nuclei	Adipose
37	chr8:121561200-121574400	Weak transcription	HSMM	muscle
38	chr8:121561200-121582600	Weak transcription	Fetal Intestine Large	intestine
39	chr8:121561200-121585200	Weak transcription	Fetal Kidney	kidney
40	chr8:121561200-121586000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:121561200-121586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:121561200-121586800	Weak transcription	Gastric	stomach
43	chr8:121561200-121586800	Weak transcription	Lung	lung
44	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
45	chr8:121561400-121563200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:121561400-121563800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:121561400-121566000	Weak transcription	Primary T cells from cord blood	blood
48	chr8:121561400-121567000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:121561400-121567400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:121561400-121568000	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links