Variant report

Variant	rs3793375
Chromosome Location	chr8:120586411-120586412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120575500..120577939-chr8:120584913..120586762,2	MCF-7	breast:
2	chr8:120585291..120587647-chr8:120589422..120591974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136960	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11782782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16892786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987751	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]
rs7012314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73328099	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3793375	TAF2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
2	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
3	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
4	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
5	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:120568600-120594000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
8	chr8:120571400-120592400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
10	chr8:120572600-120591600	Weak transcription	Psoas Muscle	Psoas
11	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:120576000-120593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:120578000-120589000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:120578600-120589400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:120578800-120595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:120579400-120597000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:120579600-120586800	Weak transcription	Brain Angular Gyrus	brain
18	chr8:120580000-120595000	Weak transcription	Brain Anterior Caudate	brain
19	chr8:120581600-120586800	Weak transcription	Brain Substantia Nigra	brain
20	chr8:120581600-120587200	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:120581800-120586600	Weak transcription	Adipose Nuclei	Adipose
22	chr8:120581800-120589600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:120582000-120587000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:120585000-120586600	Weak transcription	HSMMtube	muscle
25	chr8:120585000-120587200	Weak transcription	Fetal Lung	lung
26	chr8:120585000-120595000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:120585400-120587600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:120585400-120588000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:120586000-120587000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:120586000-120587600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:120586000-120587600	Enhancers	NHLF	lung
32	chr8:120586200-120586800	Enhancers	HMEC	breast
33	chr8:120586200-120588000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:120586400-120586600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:120586400-120586800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:120586400-120586800	Enhancers	Fetal Muscle Leg	muscle
37	chr8:120586400-120587000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:120586400-120587000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr8:120586400-120587000	Enhancers	Colon Smooth Muscle	Colon
40	chr8:120586400-120587000	Enhancers	Placenta	Placenta
41	chr8:120586400-120587200	Enhancers	HSMM	muscle
42	chr8:120586400-120587200	Flanking Active TSS	Osteobl	bone
43	chr8:120586400-120587600	Strong transcription	Liver	Liver
44	chr8:120586400-120587800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:120586400-120587800	Genic enhancers	NHDF-Ad	bronchial
46	chr8:120586400-120588200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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