Variant report

Variant	rs2891230
Chromosome Location	chr1:186089072-186089073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186080718..186085841-chr1:186086929..186090356,5	MCF-7	breast:
2	chr1:186088227..186090978-chr1:186093737..186096693,2	K562	blood:
3	chr1:186088960..186091770-chr1:186097616..186100480,2	K562	blood:
4	chr1:186084205..186086520-chr1:186088777..186090630,2	K562	blood:
5	chr1:186088498..186090978-chr1:186095193..186097428,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10489755	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs10489756	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10752962	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798035	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs10798037	0.82[EUR][1000 genomes]
rs10911810	0.82[CHD][hapmap];0.83[JPT][hapmap]
rs10911812	0.83[JPT][hapmap]
rs10911813	0.83[JPT][hapmap]
rs10911819	0.85[JPT][hapmap]
rs10911820	0.86[JPT][hapmap]
rs10911825	0.91[CHB][hapmap];0.82[CHD][hapmap]
rs12061689	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs12080760	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12122227	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12133656	0.84[EUR][1000 genomes]
rs12565788	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1322374	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs1358936	0.84[EUR][1000 genomes]
rs1407434	0.82[CHB][hapmap]
rs1555495	0.87[JPT][hapmap]
rs1923460	0.83[JPT][hapmap]
rs2038601	0.82[JPT][hapmap]
rs2057387	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2057388	0.81[EUR][1000 genomes]
rs2146098	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2224575	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.80[MEX][hapmap];0.83[EUR][1000 genomes]
rs2383431	0.87[JPT][hapmap]
rs2891228	0.87[JPT][hapmap]
rs3737941	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs4233125	0.80[CHD][hapmap];0.87[JPT][hapmap]
rs4528072	0.84[EUR][1000 genomes]
rs4650694	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4650695	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4651297	0.87[JPT][hapmap]
rs4651298	0.83[JPT][hapmap]
rs4651300	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6425015	0.87[JPT][hapmap]
rs6425016	0.86[JPT][hapmap]
rs6425017	0.86[JPT][hapmap]
rs6659783	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6664918	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6673390	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6689111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6698064	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6702313	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs721153	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7516516	0.88[EUR][1000 genomes]
rs7545010	0.86[CHB][hapmap]
rs7549552	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs7550425	0.82[JPT][hapmap]
rs7552198	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs761904	0.87[JPT][hapmap]
rs9286859	0.91[CHB][hapmap];0.82[CHD][hapmap]
rs9286860	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs970578	0.87[JPT][hapmap]
rs975398	0.83[JPT][hapmap]

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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186052200-186118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:186064000-186094200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:186064600-186092000	Weak transcription	Left Ventricle	heart
5	chr1:186064600-186113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:186065200-186093800	Weak transcription	Spleen	Spleen
7	chr1:186072200-186091000	Weak transcription	NHDF-Ad	bronchial
8	chr1:186072600-186108400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:186072800-186107800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:186073000-186121400	Weak transcription	NH-A	brain
11	chr1:186075000-186113600	Weak transcription	Lung	lung
12	chr1:186076400-186106800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:186076800-186097200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:186079000-186108000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:186079200-186092000	Weak transcription	Liver	Liver
16	chr1:186080400-186121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:186082000-186090200	Weak transcription	Aorta	Aorta
18	chr1:186082400-186090800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:186082800-186093800	Weak transcription	Ovary	ovary
20	chr1:186084200-186092000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:186084400-186106600	Weak transcription	Adipose Nuclei	Adipose
22	chr1:186085800-186089600	Weak transcription	Osteobl	bone
23	chr1:186086400-186091000	Weak transcription	K562	blood
24	chr1:186087800-186089400	Strong transcription	Fetal Lung	lung

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