Variant report

Variant	rs743183
Chromosome Location	chr20:13397227-13397228
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1012242	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1474954	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1474955	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1474956	0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs1474957	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1884796	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs1884797	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs1963182	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1998123	0.95[CEU][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs2001178	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2057256	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2057257	0.85[EUR][1000 genomes]
rs2070306	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2273477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2327790	0.87[EUR][1000 genomes]
rs2327791	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2876344	0.84[ASN][1000 genomes]
rs2876357	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34590652	0.81[ASN][1000 genomes]
rs3761889	0.84[ASN][1000 genomes]
rs3761890	0.91[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs3803973	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3827702	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3827703	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4813130	0.89[EUR][1000 genomes]
rs4813132	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4813134	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs4813135	0.83[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4814233	0.95[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs4814234	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4814235	0.91[EUR][1000 genomes]
rs4814239	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4814246	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs527865	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs529646	0.80[ASN][1000 genomes]
rs593846	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6033705	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6033722	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6033724	0.91[EUR][1000 genomes]
rs6033749	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs6033756	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6042135	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs6042141	0.90[CEU][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs6042162	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6042188	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6042192	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6042195	0.84[EUR][1000 genomes]
rs6042211	0.90[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs6042218	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs6074604	0.94[ASN][1000 genomes]
rs6074605	0.90[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6074610	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6074616	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6079032	0.84[ASN][1000 genomes]
rs6079035	0.95[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap]
rs6079042	0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6079043	0.94[ASN][1000 genomes]
rs6079048	0.90[ASN][1000 genomes]
rs6079049	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6079062	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6079063	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6079086	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6079097	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6079102	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6079115	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6105087	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6105118	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6105119	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6109847	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6109854	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6109858	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6109861	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6109862	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs6109918	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6109923	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6109935	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6109946	0.83[EUR][1000 genomes]
rs6131471	0.95[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs6134862	0.95[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs6134870	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6134895	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6514411	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7265499	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs911014	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs932568	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
2	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:13368600-13397400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr20:13369000-13411200	Strong transcription	Dnd41	blood
5	chr20:13371400-13413600	Weak transcription	Ovary	ovary
6	chr20:13372000-13397400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr20:13372000-13397400	Weak transcription	Left Ventricle	heart
8	chr20:13372000-13397400	Weak transcription	Thymus	Thymus
9	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr20:13374400-13410800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr20:13374600-13397400	Weak transcription	Fetal Intestine Small	intestine
12	chr20:13374600-13399400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr20:13374600-13405800	Weak transcription	Fetal Stomach	stomach
14	chr20:13379000-13410200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr20:13379200-13463000	Weak transcription	HSMM	muscle
16	chr20:13380800-13397600	Weak transcription	Fetal Lung	lung
17	chr20:13383200-13397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:13385200-13397400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr20:13387800-13397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr20:13390800-13397400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr20:13390800-13403000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr20:13391200-13403400	Weak transcription	Fetal Kidney	kidney
23	chr20:13392200-13397400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr20:13392600-13421400	Weak transcription	Psoas Muscle	Psoas
25	chr20:13392800-13415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr20:13393800-13397400	Weak transcription	Lung	lung
27	chr20:13393800-13411000	Weak transcription	Pancreas	Pancrea
28	chr20:13393800-13416800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr20:13394000-13397400	Weak transcription	Aorta	Aorta
30	chr20:13394000-13397400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr20:13394000-13397800	Weak transcription	Placenta	Placenta
32	chr20:13394000-13398000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr20:13394000-13403000	Weak transcription	HMEC	breast
34	chr20:13394000-13415600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr20:13394200-13397400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr20:13394200-13397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr20:13394200-13397400	Weak transcription	Liver	Liver
38	chr20:13394200-13399600	Weak transcription	A549	lung
39	chr20:13394200-13406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:13394200-13416800	Weak transcription	Esophagus	oesophagus
41	chr20:13394200-13417200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr20:13394400-13397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr20:13394600-13397400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr20:13394600-13397400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr20:13395000-13397400	Weak transcription	NHEK	skin
46	chr20:13395000-13399800	Weak transcription	Hela-S3	cervix
47	chr20:13395000-13415000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr20:13395400-13397400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr20:13395400-13399400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr20:13395400-13411000	Weak transcription	Spleen	Spleen

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