Variant report

Variant	rs11990894
Chromosome Location	chr8:121720169-121720170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11986017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992540	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];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12235050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242317	1.00[YRI][hapmap]
rs58720168	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61500490	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989022	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];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009272	0.85[ASN][1000 genomes]
rs9642852	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121711600-121722800	Weak transcription	Aorta	Aorta
2	chr8:121712800-121724400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr8:121714200-121720400	Enhancers	HepG2	liver
4	chr8:121714800-121729400	Weak transcription	Right Atrium	heart
5	chr8:121715000-121728200	Weak transcription	Psoas Muscle	Psoas
6	chr8:121716200-121726200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:121716200-121726200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:121716400-121722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:121716800-121722200	Weak transcription	Placenta	Placenta
10	chr8:121717000-121720200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:121717800-121720200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr8:121718400-121720200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:121718600-121720200	Enhancers	Liver	Liver
14	chr8:121718800-121720200	Enhancers	NHLF	lung
15	chr8:121719000-121720200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:121719000-121720200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:121719400-121720200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:121719400-121720200	Enhancers	HUVEC	blood vessel
19	chr8:121719400-121722600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:121719400-121736600	Weak transcription	HSMM	muscle
21	chr8:121719600-121720400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:121719600-121722200	Weak transcription	Left Ventricle	heart
23	chr8:121719600-121722800	Weak transcription	Fetal Thymus	thymus
24	chr8:121719600-121724000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:121719600-121724400	Enhancers	Primary T cells from cord blood	blood
26	chr8:121719600-121736400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:121719600-121739000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:121719800-121720200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:121719800-121720200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr8:121719800-121720800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:121719800-121721000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:121719800-121721200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:121719800-121721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:121719800-121722200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:121719800-121729400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:121720000-121720200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr8:121720000-121727000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr8:121720000-121729400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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