Variant report

Variant	rs7817230
Chromosome Location	chr8:95410986-95410987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10504937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541117	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12541176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542622	1.00[ASN][1000 genomes]
rs12542942	1.00[ASN][1000 genomes]
rs12548615	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16916769	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[ASN][1000 genomes]
rs2046663	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[ASN][1000 genomes]
rs2381828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs28398457	1.00[ASN][1000 genomes]
rs28595703	1.00[ASN][1000 genomes]
rs28703913	1.00[ASN][1000 genomes]
rs2890804	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3136403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3136405	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs3136408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3136409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34019009	0.91[ASN][1000 genomes]
rs4734277	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735283	0.92[EUR][1000 genomes]
rs4735290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55989726	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56272303	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57108375	0.85[ASN][1000 genomes]
rs58866206	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59111232	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs59233901	1.00[ASN][1000 genomes]
rs59273159	1.00[EUR][1000 genomes]
rs59468162	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60425434	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60523486	1.00[ASN][1000 genomes]
rs60654408	1.00[ASN][1000 genomes]
rs60894328	1.00[ASN][1000 genomes]
rs61410835	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6991270	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6991551	1.00[ASN][1000 genomes]
rs6991746	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7001164	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270109	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270139	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270196	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271911	1.00[ASN][1000 genomes]
rs73271915	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271953	1.00[ASN][1000 genomes]
rs73271959	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271964	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271995	1.00[ASN][1000 genomes]
rs73695185	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824591	1.00[ASN][1000 genomes]
rs7829493	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7836446	1.00[ASN][1000 genomes]
rs7842883	1.00[EUR][1000 genomes]
rs7845278	1.00[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
6	chr8:95382400-95414800	Weak transcription	Gastric	stomach
7	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:95386000-95413400	Weak transcription	NHLF	lung
9	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
10	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
11	chr8:95386400-95412000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:95386600-95418400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:95387200-95418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:95389200-95415600	Weak transcription	Adipose Nuclei	Adipose
15	chr8:95389200-95417800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:95389800-95413000	Weak transcription	Placenta	Placenta
17	chr8:95391800-95412600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:95392000-95413600	Weak transcription	Left Ventricle	heart
19	chr8:95392200-95414400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:95392200-95415000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:95392200-95419000	Weak transcription	Thymus	Thymus
22	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:95392400-95412200	Weak transcription	Brain Substantia Nigra	brain
25	chr8:95392400-95413200	Weak transcription	Ovary	ovary
26	chr8:95392400-95413600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:95392400-95416000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:95392400-95417400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:95392600-95413200	Weak transcription	Fetal Lung	lung
30	chr8:95392600-95413400	Weak transcription	Fetal Intestine Large	intestine
31	chr8:95392600-95414200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:95392600-95415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:95392600-95417400	Weak transcription	Osteobl	bone
34	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
35	chr8:95393000-95416000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:95393000-95418000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:95393200-95447000	Weak transcription	K562	blood
38	chr8:95397800-95413000	Weak transcription	Liver	Liver
39	chr8:95398000-95411800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:95400200-95411800	Strong transcription	GM12878-XiMat	blood
41	chr8:95400200-95420200	Weak transcription	Stomach Mucosa	stomach
42	chr8:95400400-95419600	Weak transcription	Fetal Intestine Small	intestine
43	chr8:95400600-95416400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:95401400-95419400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:95402600-95412800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:95402800-95417000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:95404000-95412800	Weak transcription	Brain Anterior Caudate	brain
48	chr8:95404000-95416600	Weak transcription	Brain Germinal Matrix	brain
49	chr8:95404000-95418400	Weak transcription	NH-A	brain
50	chr8:95404200-95413400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links