Variant report

Variant	rs2170491
Chromosome Location	chr8:49540310-49540311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49533480..49535514-chr8:49539085..49541873,2	MCF-7	breast:
2	chr8:49539159..49543167-chr8:49831897..49834584,3	MCF-7	breast:
3	chr8:49318960..49320898-chr8:49538715..49540551,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253702	Chromatin interaction
ENSG00000019549	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10086031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10086847	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10089017	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10094884	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10097910	0.85[CEU][hapmap]
rs10098811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10107998	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10429408	0.85[AMR][1000 genomes]
rs10504066	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10957191	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11992055	0.85[AMR][1000 genomes]
rs11994273	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12549717	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13248205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13251674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13257444	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13275840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13278011	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13439150	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1482264	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16938259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16938260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16938290	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16938363	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2046236	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28496614	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33997479	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34036465	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35116039	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35306055	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35379802	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35545096	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35564937	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36071901	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4873281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873282	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873283	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988001	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6989273	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71511941	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs745488	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361307	chr8:49536599-49540897	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49534400-49556000	Weak transcription	Pancreas	Pancrea
2	chr8:49534600-49543000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:49535200-49541000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:49535200-49541600	Weak transcription	Gastric	stomach
5	chr8:49537400-49541800	Enhancers	Placenta	Placenta
6	chr8:49537600-49547000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:49537800-49542400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:49538400-49540400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:49538400-49545800	Weak transcription	Fetal Stomach	stomach
10	chr8:49538600-49541800	Enhancers	HUVEC	blood vessel
11	chr8:49538600-49546200	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:49538800-49540400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:49538800-49544000	Enhancers	HMEC	breast
14	chr8:49539000-49540600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:49539000-49543200	Enhancers	A549	lung
16	chr8:49539000-49543600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:49539000-49546000	Weak transcription	Fetal Kidney	kidney
18	chr8:49539200-49540600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:49539200-49544200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:49539200-49544200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:49539600-49544000	Enhancers	NHEK	skin
22	chr8:49539800-49540400	Enhancers	NHDF-Ad	bronchial
23	chr8:49539800-49540400	Enhancers	NHLF	lung
24	chr8:49539800-49540600	Enhancers	HSMM	muscle
25	chr8:49539800-49541800	Enhancers	Osteobl	bone
26	chr8:49539800-49544200	Enhancers	NH-A	brain
27	chr8:49540000-49540400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:49540000-49540400	Flanking Active TSS	Hela-S3	cervix
29	chr8:49540000-49541600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:49540000-49543000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:49540000-49543600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:49540200-49542600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:49540200-49543000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links