Variant report

Variant	rs2073308
Chromosome Location	chr1:186063143-186063144
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186054319..186058815-chr1:186059370..186064070,6	K562	blood:
2	chr1:186054319..186058935-chr1:186059910..186064070,10	K562	blood:
3	chr1:186061833..186064192-chr1:186068830..186070872,3	K562	blood:
4	chr1:186061662..186064294-chr1:186070874..186073060,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10157742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10157924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1022670	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1022671	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10489756	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs10737266	0.81[CHB][hapmap]
rs10752960	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10752961	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798035	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10911808	0.81[CHB][hapmap]
rs10911810	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10911811	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10911812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911814	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911815	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10911816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911819	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10911820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12078939	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12080760	0.82[JPT][hapmap]
rs12122227	0.81[ASN][1000 genomes]
rs12565788	0.81[ASN][1000 genomes]
rs12566113	0.80[CHB][hapmap]
rs1322374	0.82[JPT][hapmap]
rs1555495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1590273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1830627	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1853249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1923460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1998088	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2038601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2057387	0.81[ASN][1000 genomes]
rs2057388	0.81[ASN][1000 genomes]
rs2064789	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2064790	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2146098	0.81[ASN][1000 genomes]
rs2180480	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2383430	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2383431	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2383432	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2383433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2891228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2891229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650695	0.82[JPT][hapmap]
rs4651292	0.81[CHB][hapmap]
rs4651295	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4651297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4651298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4651299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4651300	0.81[ASN][1000 genomes]
rs4651302	0.81[CHB][hapmap]
rs6425012	0.81[CHB][hapmap]
rs6425014	0.82[CHB][hapmap]
rs6425015	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6425016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6425017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6673390	0.80[ASN][1000 genomes]
rs6687977	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6689111	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs6698064	0.81[ASN][1000 genomes]
rs6701244	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6702313	0.81[ASN][1000 genomes]
rs6703518	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs716755	0.96[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs716756	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs720971	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs720972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs721153	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7511761	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7512168	0.83[ASN][1000 genomes]
rs7520459	0.81[CHB][hapmap]
rs7527490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7530133	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7543494	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7545010	0.90[CHB][hapmap]
rs7550425	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7552198	0.82[ASN][1000 genomes]
rs7552781	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7555520	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7555906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs761903	0.89[ASN][1000 genomes]
rs761904	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs761905	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs970578	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs975398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186009400-186078000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:186013600-186068400	Weak transcription	Fetal Kidney	kidney
3	chr1:186040200-186064400	Weak transcription	Lung	lung
4	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:186050600-186064400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:186051400-186063200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:186051600-186064400	Weak transcription	Left Ventricle	heart
8	chr1:186052200-186118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:186057400-186083800	Weak transcription	Adipose Nuclei	Adipose
10	chr1:186057600-186077800	Weak transcription	Liver	Liver
11	chr1:186057600-186078000	Weak transcription	Aorta	Aorta
12	chr1:186062200-186064600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:186062200-186064600	Enhancers	Hela-S3	cervix
14	chr1:186062400-186064000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:186062600-186063200	Enhancers	NHDF-Ad	bronchial
16	chr1:186062600-186063400	Flanking Active TSS	HUVEC	blood vessel
17	chr1:186062600-186063800	Enhancers	Osteobl	bone
18	chr1:186062600-186064000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:186062600-186064000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:186062800-186064000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:186062800-186064000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:186062800-186064000	Enhancers	NH-A	brain
23	chr1:186062800-186064200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:186062800-186065400	Weak transcription	Fetal Lung	lung
25	chr1:186063000-186063600	Enhancers	NHLF	lung
26	chr1:186063000-186068000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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