Variant report

Variant	rs36591
Chromosome Location	chr22:30328763-30328764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1071888	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1076137	0.81[EUR][1000 genomes]
rs11090598	0.81[AMR][1000 genomes]
rs12168499	0.81[AMR][1000 genomes]
rs12168552	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12171061	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17643918	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648725	0.81[AMR][1000 genomes]
rs1807509	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs193473	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs193481	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2017677	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051764	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2105870	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2412960	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412963	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28257	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34862234	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35705048	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36580	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36586	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36594	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36596	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36598	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36600	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36601	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36604	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36605	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36606	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36607	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788423	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3887275	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3958025	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs39712	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41162	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41166	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs41175	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41179	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4239932	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4239933	0.81[AMR][1000 genomes]
rs4337577	0.81[AMR][1000 genomes]
rs4820820	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4820822	0.85[EUR][1000 genomes]
rs4823055	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4823063	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4823070	0.81[AMR][1000 genomes]
rs4993442	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5752968	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5752986	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5752988	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5752993	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763630	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763634	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763674	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763675	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763680	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763689	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763691	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs715523	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs718772	0.83[AMR][1000 genomes]
rs7286070	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7292615	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs737904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737909	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737912	0.86[EUR][1000 genomes]
rs7510705	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8135823	0.81[AMR][1000 genomes]
rs8136147	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8139994	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8141404	0.83[AMR][1000 genomes]
rs8141680	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9620926	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9620943	0.83[AMR][1000 genomes]
rs9625873	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625874	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625878	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9625879	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9625919	0.83[AMR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
2	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30311800-30340400	Weak transcription	HSMM	muscle
4	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
6	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
8	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:30314600-30329200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:30319800-30329800	Weak transcription	Right Atrium	heart
12	chr22:30319800-30333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:30320400-30331200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:30320400-30333800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr22:30321200-30329000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:30321400-30330200	Weak transcription	Left Ventricle	heart
18	chr22:30321400-30331200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr22:30321400-30339800	Weak transcription	Lung	lung
20	chr22:30321800-30334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:30322000-30332200	Weak transcription	Fetal Intestine Small	intestine
22	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:30326800-30330600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr22:30327000-30330400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:30327600-30331800	Weak transcription	Pancreas	Pancrea
26	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
27	chr22:30327800-30329600	Weak transcription	Psoas Muscle	Psoas
28	chr22:30328000-30329000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr22:30328000-30329800	Weak transcription	Ovary	ovary
30	chr22:30328200-30333800	Weak transcription	Primary T cells from cord blood	blood
31	chr22:30328400-30329400	Weak transcription	Brain Substantia Nigra	brain
32	chr22:30328400-30330200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr22:30328400-30332000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:30328400-30333800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr22:30328600-30328800	Enhancers	GM12878-XiMat	blood
38	chr22:30328600-30331200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr22:30328600-30331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:30328600-30331200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:30328600-30332200	Weak transcription	Adipose Nuclei	Adipose
42	chr22:30328600-30332400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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