Variant report

Variant	rs5752986
Chromosome Location	chr22:30351571-30351572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
2	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:
3	chr22:30349519..30352332-chr22:30354507..30356583,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1071888	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11090598	0.82[EUR][1000 genomes]
rs12168499	0.82[EUR][1000 genomes]
rs12168552	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12171061	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12171250	0.81[EUR][1000 genomes]
rs17643918	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17648725	0.82[EUR][1000 genomes]
rs1807509	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs193473	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs193481	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2017677	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2051764	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2105870	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2412960	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412963	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28257	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34862234	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35705048	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36580	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36586	0.82[AMR][1000 genomes]
rs36590	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36591	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36594	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36596	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36598	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36600	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36601	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36604	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36605	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36607	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3788423	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3887275	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs39712	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41162	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41164	0.85[EUR][1000 genomes]
rs41166	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41175	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41179	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4239932	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239933	0.82[EUR][1000 genomes]
rs4337577	0.82[EUR][1000 genomes]
rs4820822	0.81[EUR][1000 genomes]
rs4823063	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4823070	0.82[EUR][1000 genomes]
rs4993442	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5752988	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5752993	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763630	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763634	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763644	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763674	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763675	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763680	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763689	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763691	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs715523	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs718772	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7286070	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7292615	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs737904	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737909	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737912	0.93[EUR][1000 genomes]
rs7510705	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8135823	0.82[EUR][1000 genomes]
rs8136147	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8139994	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8141404	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8141680	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9620926	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9620943	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9620953	0.80[EUR][1000 genomes]
rs9625873	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9625874	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9625878	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9625879	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9625919	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9625926	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
2	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
4	chr22:30340200-30355400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
6	chr22:30340600-30360400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:30340600-30370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:30341200-30352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:30341200-30353600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr22:30341400-30354400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr22:30341400-30355200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:30342600-30352200	Weak transcription	Gastric	stomach
15	chr22:30342600-30375200	Weak transcription	Spleen	Spleen
16	chr22:30344200-30375000	Weak transcription	HMEC	breast
17	chr22:30344400-30376000	Weak transcription	HSMMtube	muscle
18	chr22:30344600-30357600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:30344600-30357800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:30344600-30358400	Weak transcription	Fetal Stomach	stomach
21	chr22:30344600-30367200	Weak transcription	Brain Anterior Caudate	brain
22	chr22:30344600-30370000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:30344600-30374600	Weak transcription	Adipose Nuclei	Adipose
24	chr22:30344600-30375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:30345000-30352800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:30345000-30358600	Weak transcription	Fetal Lung	lung
27	chr22:30345000-30367200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:30345000-30367600	Weak transcription	Brain Germinal Matrix	brain
29	chr22:30345000-30375400	Weak transcription	Fetal Brain Female	brain
30	chr22:30345400-30352200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:30345400-30356400	Weak transcription	Fetal Brain Male	brain
32	chr22:30345400-30370000	Weak transcription	HSMM	muscle
33	chr22:30345400-30371600	Weak transcription	Lung	lung
34	chr22:30345400-30379000	Weak transcription	Esophagus	oesophagus
35	chr22:30345800-30363200	Weak transcription	Liver	Liver
36	chr22:30346200-30355200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:30347000-30373800	Weak transcription	Left Ventricle	heart
38	chr22:30347200-30352200	Weak transcription	Psoas Muscle	Psoas
39	chr22:30347200-30357800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr22:30347200-30369600	Weak transcription	Pancreas	Pancrea
41	chr22:30347600-30359600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr22:30347600-30360000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr22:30347800-30352200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr22:30347800-30353800	Weak transcription	Primary B cells from cord blood	blood
45	chr22:30348000-30374800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr22:30348200-30352000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:30348200-30354200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr22:30348200-30357600	Weak transcription	Primary T cells from cord blood	blood
49	chr22:30348200-30363200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr22:30348400-30352400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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