Variant report

Variant	rs6984374
Chromosome Location	chr8:121704978-121704979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs4242317	0.83[TSI][hapmap]
rs4242318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242319	0.89[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4484738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870747	0.83[JPT][hapmap]
rs4871095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871096	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871098	0.89[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6469945	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982685	0.89[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6983421	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995596	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];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819104	0.80[CHB][hapmap]
rs7845391	0.84[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8180897	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643148	0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
rs6984374	SNTB1	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
2	chr8:121685400-121714400	Weak transcription	Pancreas	Pancrea
3	chr8:121685600-121714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:121686800-121709000	Weak transcription	Small Intestine	intestine
5	chr8:121690200-121706600	Strong transcription	HepG2	liver
6	chr8:121691400-121705200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:121697400-121705800	Weak transcription	Aorta	Aorta
8	chr8:121697600-121706200	Weak transcription	Esophagus	oesophagus
9	chr8:121697800-121705200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:121697800-121706200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:121697800-121706200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:121697800-121713600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:121697800-121714400	Weak transcription	Placenta	Placenta
14	chr8:121698400-121709000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:121698800-121706200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:121698800-121706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:121699600-121706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:121699800-121714200	Weak transcription	Fetal Thymus	thymus
19	chr8:121701000-121706000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:121701000-121706000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr8:121701200-121706200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:121701200-121707600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:121701600-121705200	Weak transcription	Left Ventricle	heart
24	chr8:121701800-121705000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:121702400-121706000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr8:121702400-121706200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:121702600-121706000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:121702800-121706200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:121703000-121706200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:121703000-121714200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:121703200-121705800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:121703200-121706000	Strong transcription	Primary T cells from cord blood	blood
33	chr8:121703600-121705400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:121703600-121706400	Strong transcription	Primary hematopoietic stem cells	blood
35	chr8:121703800-121706200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:121704000-121705000	Enhancers	Brain Angular Gyrus	brain
37	chr8:121704000-121705000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:121704000-121705400	Genic enhancers	NHDF-Ad	bronchial
39	chr8:121704000-121706000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:121704000-121706200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:121704000-121714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:121704200-121705000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:121704200-121705000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:121704200-121705000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr8:121704200-121705000	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr8:121704200-121705000	Flanking Active TSS	HSMMtube	muscle
47	chr8:121704200-121705400	Genic enhancers	Fetal Stomach	stomach
48	chr8:121704200-121706000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:121704200-121706200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:121704200-121706200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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