Variant report

Variant	rs7828909
Chromosome Location	chr8:121686691-121686692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11783798	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.82[ASN][1000 genomes]
rs11993445	0.80[CHB][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.82[ASN][1000 genomes]
rs4076711	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077727	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307384	0.95[JPT][hapmap]
rs4360333	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4361791	0.80[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4366115	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4392948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512418	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4515598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607661	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870742	0.95[JPT][hapmap]
rs4871093	0.82[EUR][1000 genomes]
rs5003013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59486364	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6469944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66856703	0.82[ASN][1000 genomes]
rs6986798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987331	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.82[ASN][1000 genomes]
rs6987352	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7837985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842679	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv6369	chr8:121654665-121699920	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7828909	SNTB1	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121667400-121690200	Weak transcription	Fetal Stomach	stomach
2	chr8:121672600-121690400	Weak transcription	Fetal Kidney	kidney
3	chr8:121672600-121699600	Weak transcription	HSMM	muscle
4	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
5	chr8:121680600-121697600	Weak transcription	Gastric	stomach
6	chr8:121680600-121704600	Weak transcription	Fetal Intestine Large	intestine
7	chr8:121680800-121701000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:121681400-121704200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:121681600-121690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:121681600-121699600	Weak transcription	Osteobl	bone
11	chr8:121681600-121701000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:121682200-121690400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:121682200-121700400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:121682800-121698000	Weak transcription	Primary B cells from cord blood	blood
15	chr8:121684600-121687000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:121685000-121687000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:121685000-121687000	Enhancers	Fetal Muscle Leg	muscle
18	chr8:121685000-121688000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:121685200-121688200	Enhancers	NHDF-Ad	bronchial
20	chr8:121685400-121686800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:121685400-121687800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:121685400-121690600	Weak transcription	Liver	Liver
23	chr8:121685400-121697200	Weak transcription	Lung	lung
24	chr8:121685400-121714400	Weak transcription	Pancreas	Pancrea
25	chr8:121685600-121686800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr8:121685600-121686800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:121685600-121690400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:121685600-121714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:121685800-121687000	Enhancers	Colon Smooth Muscle	Colon
30	chr8:121685800-121690000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr8:121686000-121688600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:121686200-121686800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr8:121686200-121687000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:121686200-121687200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:121686200-121687800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:121686200-121688200	Enhancers	HSMMtube	muscle
37	chr8:121686200-121691000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:121686200-121691000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:121686200-121697200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:121686200-121697600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:121686400-121686800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:121686400-121686800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:121686400-121686800	Genic enhancers	HepG2	liver
44	chr8:121686400-121686800	Enhancers	NHLF	lung
45	chr8:121686400-121687800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:121686400-121688600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:121686600-121686800	Enhancers	Placenta	Placenta
48	chr8:121686600-121686800	Enhancers	Small Intestine	intestine
49	chr8:121686600-121687800	Weak transcription	Psoas Muscle	Psoas
50	chr8:121686600-121690400	Weak transcription	Primary T cells from cord blood	blood

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