Variant report

Variant	rs5752993
Chromosome Location	chr22:30387160-30387161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30376984..30378787-chr22:30386876..30389530,2	MCF-7	breast:
2	chr22:30381816..30383716-chr22:30385807..30388025,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10048885	0.82[AMR][1000 genomes]
rs1071888	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11090598	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12167333	0.82[AMR][1000 genomes]
rs12168499	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12168552	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12171061	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12171250	0.82[EUR][1000 genomes]
rs17643918	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17648725	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1807509	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193473	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs193481	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2017677	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051764	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105870	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2412960	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412963	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28257	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34862234	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35705048	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36580	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36586	0.82[AMR][1000 genomes]
rs36590	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36591	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36594	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36596	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36598	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36600	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36601	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36604	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36605	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36606	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36607	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887275	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs39712	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41162	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41164	0.86[EUR][1000 genomes]
rs41166	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41175	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41179	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4239932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4239933	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4337577	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4823063	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4823070	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4993442	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5752986	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5752988	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763630	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763634	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763644	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763680	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763689	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763691	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs715523	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718772	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7286070	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7292615	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737904	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737909	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737912	0.93[EUR][1000 genomes]
rs7510705	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8135823	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8136147	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8139994	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8141404	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8141680	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9620926	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9620943	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9620953	0.81[EUR][1000 genomes]
rs9625873	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9625874	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9625878	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9625879	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9625919	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9625926	0.83[EUR][1000 genomes]
rs9625931	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30348400-30387200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
3	chr22:30351200-30387400	Weak transcription	Ovary	ovary
4	chr22:30352800-30388600	Weak transcription	HepG2	liver
5	chr22:30354600-30390200	Weak transcription	Colonic Mucosa	Colon
6	chr22:30354800-30390400	Weak transcription	Small Intestine	intestine
7	chr22:30358800-30387400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr22:30366400-30387400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:30366600-30390800	Weak transcription	Gastric	stomach
11	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr22:30367400-30397800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr22:30368400-30387400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr22:30369400-30388400	Weak transcription	NH-A	brain
15	chr22:30370000-30391000	Weak transcription	Fetal Heart	heart
16	chr22:30370200-30388400	Weak transcription	NHLF	lung
17	chr22:30370600-30390800	Weak transcription	Right Ventricle	heart
18	chr22:30370800-30387400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:30370800-30390000	Weak transcription	Stomach Mucosa	stomach
20	chr22:30373400-30388600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:30373600-30388600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:30373800-30391400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr22:30374200-30389600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr22:30375200-30389800	Weak transcription	K562	blood
25	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:30375400-30390800	Weak transcription	Pancreas	Pancrea
27	chr22:30375800-30387400	Weak transcription	Spleen	Spleen
28	chr22:30375800-30388400	Weak transcription	A549	lung
29	chr22:30375800-30389800	Weak transcription	HUVEC	blood vessel
30	chr22:30376000-30387200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr22:30376000-30387400	Weak transcription	Brain Germinal Matrix	brain
32	chr22:30376000-30387400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:30376000-30387400	Weak transcription	Colon Smooth Muscle	Colon
34	chr22:30376000-30387400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr22:30376200-30388200	Weak transcription	HMEC	breast
36	chr22:30376200-30389800	Weak transcription	Hela-S3	cervix
37	chr22:30376200-30394800	Weak transcription	GM12878-XiMat	blood
38	chr22:30376600-30387400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr22:30376600-30387400	Weak transcription	Psoas Muscle	Psoas
40	chr22:30376800-30387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:30377000-30387400	Weak transcription	Fetal Thymus	thymus
42	chr22:30377000-30389400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr22:30377200-30388400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr22:30377200-30388400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:30377400-30388400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr22:30377400-30388400	Weak transcription	NHEK	skin
47	chr22:30377600-30387400	Weak transcription	Osteobl	bone
48	chr22:30377600-30388400	Weak transcription	HSMMtube	muscle
49	chr22:30377600-30402800	Weak transcription	Fetal Brain Male	brain
50	chr22:30377800-30387400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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