Variant report

Variant	rs57914950
Chromosome Location	chr8:48312463-48312464
allele	C/T
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]
rs10110402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473889	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988862	0.97[EUR][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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48282400-48321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:48290800-48322200	Weak transcription	Liver	Liver
3	chr8:48290800-48347400	Weak transcription	HepG2	liver
4	chr8:48293000-48312600	Weak transcription	Fetal Thymus	thymus
5	chr8:48293200-48315000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:48295800-48324400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:48298200-48325600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:48298400-48316400	Weak transcription	NHLF	lung
9	chr8:48298400-48325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:48298600-48325600	Weak transcription	Osteobl	bone
11	chr8:48299600-48331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:48300000-48318600	Weak transcription	Stomach Mucosa	stomach
13	chr8:48300400-48331400	Weak transcription	Fetal Brain Male	brain
14	chr8:48300600-48320200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:48300800-48325600	Weak transcription	HMEC	breast
16	chr8:48301400-48341200	Weak transcription	HSMMtube	muscle
17	chr8:48301600-48325600	Weak transcription	Adipose Nuclei	Adipose
18	chr8:48303800-48328000	Weak transcription	Ovary	ovary
19	chr8:48306000-48312600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:48306200-48314800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:48306600-48314200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:48307000-48313400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:48307400-48328000	Weak transcription	GM12878-XiMat	blood
24	chr8:48307800-48317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:48308400-48343600	Weak transcription	Colonic Mucosa	Colon
26	chr8:48308600-48312600	Strong transcription	Dnd41	blood
27	chr8:48308600-48313200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:48308600-48322600	Weak transcription	HUVEC	blood vessel
29	chr8:48308600-48328000	Weak transcription	HSMM	muscle
30	chr8:48308800-48312800	Weak transcription	Fetal Kidney	kidney
31	chr8:48308800-48313000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:48308800-48319000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:48308800-48322000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:48308800-48331000	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:48308800-48341200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:48309000-48312600	Strong transcription	Fetal Muscle Leg	muscle
37	chr8:48309400-48313200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:48309400-48313600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:48309600-48312600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:48309600-48312800	Strong transcription	Thymus	Thymus
41	chr8:48309600-48313200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:48309600-48313600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:48309800-48313200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:48310000-48312600	ZNF genes & repeats	Fetal Brain Female	brain
45	chr8:48310000-48312600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr8:48310000-48313200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:48310000-48350600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:48310200-48312600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:48310200-48313000	Strong transcription	A549	lung
50	chr8:48310400-48320800	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links