Variant report

Variant	rs58660443
Chromosome Location	chr8:48310185-48310186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61111713	1.00[AMR][1000 genomes]
rs6472450	1.00[AMR][1000 genomes]
rs6981604	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1018457	chr8:48289643-48321308	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48279000-48310200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:48280600-48311200	Weak transcription	Aorta	Aorta
3	chr8:48282200-48311200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:48282200-48312200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:48282400-48321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:48290400-48311400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:48290800-48322200	Weak transcription	Liver	Liver
8	chr8:48290800-48347400	Weak transcription	HepG2	liver
9	chr8:48292000-48310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:48293000-48312600	Weak transcription	Fetal Thymus	thymus
11	chr8:48293200-48315000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:48295800-48311200	Weak transcription	Lung	lung
13	chr8:48295800-48324400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:48297400-48310600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:48297400-48312400	Weak transcription	Left Ventricle	heart
16	chr8:48298200-48310200	Weak transcription	A549	lung
17	chr8:48298200-48310400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:48298200-48325600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:48298400-48310800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:48298400-48316400	Weak transcription	NHLF	lung
21	chr8:48298400-48325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:48298600-48325600	Weak transcription	Osteobl	bone
23	chr8:48299600-48331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:48300000-48311400	Weak transcription	Esophagus	oesophagus
25	chr8:48300000-48312200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:48300000-48318600	Weak transcription	Stomach Mucosa	stomach
27	chr8:48300200-48310200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:48300200-48310800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:48300200-48311200	Weak transcription	Pancreas	Pancrea
30	chr8:48300200-48311400	Weak transcription	Hela-S3	cervix
31	chr8:48300400-48331400	Weak transcription	Fetal Brain Male	brain
32	chr8:48300600-48320200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:48300800-48325600	Weak transcription	HMEC	breast
34	chr8:48301400-48341200	Weak transcription	HSMMtube	muscle
35	chr8:48301600-48310200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:48301600-48310400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:48301600-48311200	Weak transcription	K562	blood
38	chr8:48301600-48325600	Weak transcription	Adipose Nuclei	Adipose
39	chr8:48302800-48311000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:48303600-48310200	Weak transcription	Brain Germinal Matrix	brain
41	chr8:48303800-48328000	Weak transcription	Ovary	ovary
42	chr8:48306000-48312600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:48306200-48314800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:48306600-48314200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:48307000-48312400	Weak transcription	Primary T cells from cord blood	blood
46	chr8:48307000-48313400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:48307400-48328000	Weak transcription	GM12878-XiMat	blood
48	chr8:48307800-48317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:48308200-48310200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:48308400-48310200	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links