Variant report

Variant	rs12565788
Chromosome Location	chr1:186090746-186090747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186088227..186090978-chr1:186093737..186096693,2	K562	blood:
2	chr1:186088960..186091770-chr1:186097616..186100480,2	K562	blood:
3	chr1:186088498..186090978-chr1:186095193..186097428,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10157742	0.88[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10157924	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10489755	0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[ASN][1000 genomes]
rs10489756	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.96[MEX][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10752962	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10798035	0.83[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap]
rs10798036	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs10798037	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10911806	0.81[JPT][hapmap]
rs10911808	0.81[JPT][hapmap]
rs10911810	0.83[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap]
rs10911812	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs10911813	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs10911816	0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10911819	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10911820	0.91[JPT][hapmap]
rs10911825	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs10911826	0.96[ASN][1000 genomes]
rs10911828	0.82[ASN][1000 genomes]
rs10911829	0.93[ASN][1000 genomes]
rs12061689	0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[ASN][1000 genomes]
rs12078939	0.82[ASN][1000 genomes]
rs12080760	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12122227	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12124204	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12133656	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1322374	0.95[CHB][hapmap];0.86[CHD][hapmap];0.84[ASN][1000 genomes]
rs1358936	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407434	0.82[CHB][hapmap]
rs1555495	0.87[JPT][hapmap]
rs1590273	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1853249	0.85[JPT][hapmap]
rs1923460	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2038601	0.90[JPT][hapmap]
rs2057387	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057388	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2064790	0.95[JPT][hapmap]
rs2073308	0.81[ASN][1000 genomes]
rs2146098	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs2180480	0.81[ASN][1000 genomes]
rs2224575	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2383431	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs2383433	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2891228	0.87[JPT][hapmap]
rs2891229	0.82[JPT][hapmap]
rs2891230	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]
rs3737941	0.95[CHB][hapmap];0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs3845367	0.96[ASN][1000 genomes]
rs4233125	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs4528072	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4535962	0.96[ASN][1000 genomes]
rs4650689	0.81[JPT][hapmap]
rs4650691	0.81[JPT][hapmap]
rs4650694	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4650695	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4651297	0.87[JPT][hapmap]
rs4651298	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs4651299	0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4651300	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4651302	0.88[CHD][hapmap];0.87[JPT][hapmap]
rs6425015	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs6425016	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs6425017	0.85[CHD][hapmap];0.86[JPT][hapmap]
rs6659783	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6664918	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.96[MEX][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6673390	0.96[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6689111	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6696910	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6698064	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6701244	0.80[ASN][1000 genomes]
rs6702313	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6703518	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs716755	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs716756	0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs720971	0.83[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs720972	0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs721153	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7511761	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7512168	0.85[ASN][1000 genomes]
rs7516516	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7527490	0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7543494	0.93[ASN][1000 genomes]
rs7545010	0.90[CHB][hapmap];0.88[CHD][hapmap]
rs7549552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7550425	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs7552198	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7552781	0.84[ASN][1000 genomes]
rs7555520	0.88[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7555906	0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs761904	0.87[JPT][hapmap]
rs9286859	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs9286860	1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[ASN][1000 genomes]
rs970578	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs975398	0.91[JPT][hapmap]
rs980947	0.81[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	chr1:186082400-186090800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:186082800-186093800	Weak transcription	Ovary	ovary
19	chr1:186084200-186092000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:186084400-186106600	Weak transcription	Adipose Nuclei	Adipose
21	chr1:186086400-186091000	Weak transcription	K562	blood
22	chr1:186089400-186107600	Weak transcription	Fetal Lung	lung
23	chr1:186090200-186092200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:186090200-186092600	Strong transcription	Aorta	Aorta

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