Variant report

Variant	rs10957549
Chromosome Location	chr8:48398644-48398645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10957644	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10958058	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1106607	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11778548	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11782572	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11784823	0.98[EUR][1000 genomes]
rs12544329	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12547513	0.86[ASN][1000 genomes]
rs12549996	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12675378	0.96[EUR][1000 genomes]
rs12678110	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12682269	0.81[ASN][1000 genomes]
rs13259913	0.85[ASN][1000 genomes]
rs16928696	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1872840	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2129617	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2129618	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2130412	0.97[EUR][1000 genomes]
rs2130413	0.96[EUR][1000 genomes]
rs4489323	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4536257	0.94[EUR][1000 genomes]
rs4608108	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4873368	0.99[EUR][1000 genomes]
rs4873395	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4873399	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4873437	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873507	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4873529	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4873565	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4873619	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55941013	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56092229	0.92[EUR][1000 genomes]
rs62539116	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62539144	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62539147	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62539150	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6982620	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987043	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6989917	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7012341	0.86[ASN][1000 genomes]
rs876915	0.97[EUR][1000 genomes]
rs923499	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:48391200-48399000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:48392200-48403000	Weak transcription	Brain Angular Gyrus	brain
4	chr8:48392600-48402000	Weak transcription	HepG2	liver
5	chr8:48392600-48402400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:48393400-48398800	Weak transcription	K562	blood
7	chr8:48393400-48400200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:48393400-48410400	Weak transcription	Ovary	ovary
9	chr8:48393600-48399000	Weak transcription	HMEC	breast
10	chr8:48393800-48398800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:48393800-48400800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:48394200-48419800	Weak transcription	Pancreas	Pancrea
13	chr8:48396000-48398800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:48396200-48399000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:48396200-48399600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:48396800-48398800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:48396800-48399000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:48397200-48399000	Weak transcription	Fetal Kidney	kidney
19	chr8:48397600-48399200	Weak transcription	GM12878-XiMat	blood
20	chr8:48397600-48399400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:48397600-48419400	Weak transcription	Primary T cells from cord blood	blood
22	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
23	chr8:48397800-48398800	Strong transcription	Fetal Lung	lung
24	chr8:48397800-48399200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:48397800-48400800	Weak transcription	HSMM	muscle
26	chr8:48397800-48401600	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:48397800-48403000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:48397800-48404200	Weak transcription	Lung	lung
29	chr8:48397800-48406200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:48397800-48406600	Weak transcription	Esophagus	oesophagus
31	chr8:48397800-48410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:48397800-48410600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:48397800-48417600	Weak transcription	Gastric	stomach
34	chr8:48397800-48418200	Weak transcription	Dnd41	blood
35	chr8:48398000-48399600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:48398000-48407200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:48398200-48410400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:48398200-48417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:48398200-48420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:48398400-48411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:48398400-48411600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:48398600-48401200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:48398600-48404600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:48398600-48407200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:48398600-48417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links