Variant report

Variant	rs4337577
Chromosome Location	chr22:30512128-30512129
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30510772..30513351-chr22:30653868..30656059,2	MCF-7	breast:
2	chr22:30510449..30512616-chr22:30646974..30649520,2	MCF-7	breast:
3	chr22:30505986..30512409-chr22:30645938..30650817,6	MCF-7	breast:
4	chr22:30508949..30512192-chr22:30606244..30608279,3	MCF-7	breast:
5	chr22:30510247..30512648-chr22:30515643..30517309,2	K562	blood:
6	chr22:30507793..30510712-chr22:30511298..30514202,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10048885	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11090598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12167333	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12168499	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12171061	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12171250	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12171263	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17648725	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1807509	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs193473	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs193481	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1978083	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2017677	0.84[EUR][1000 genomes]
rs2051764	0.84[EUR][1000 genomes]
rs2412960	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2412963	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs28257	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36580	0.81[AMR][1000 genomes]
rs36590	0.81[AMR][1000 genomes]
rs36591	0.81[AMR][1000 genomes]
rs36594	0.81[AMR][1000 genomes]
rs36596	0.81[AMR][1000 genomes]
rs36598	0.81[AMR][1000 genomes]
rs36600	0.95[CEU][hapmap];0.81[AMR][1000 genomes]
rs36601	0.81[AMR][1000 genomes]
rs36604	0.95[CEU][hapmap]
rs36605	0.81[AMR][1000 genomes]
rs36607	0.81[AMR][1000 genomes]
rs3788423	0.95[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs39712	0.81[AMR][1000 genomes]
rs41162	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs41164	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs41166	0.82[EUR][1000 genomes]
rs41172	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs41174	0.87[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41175	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41177	0.80[CEU][hapmap]
rs41178	0.81[ASN][1000 genomes]
rs41179	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4239932	0.95[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4239933	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4823070	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752986	0.82[EUR][1000 genomes]
rs5752988	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5752993	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5763634	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5763644	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5763674	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5763675	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5763680	0.84[EUR][1000 genomes]
rs5763689	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs715523	0.83[EUR][1000 genomes]
rs718772	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs737904	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs737909	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs737912	0.96[CEU][hapmap]
rs7510705	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8138286	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8141404	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8141765	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9614162	0.82[YRI][hapmap]
rs9620943	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9620953	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9625919	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625926	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625931	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625933	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625935	0.81[AMR][1000 genomes];0.89[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	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30509600-30512200	Enhancers	A549	lung
2	chr22:30510600-30513000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:30511200-30513600	Enhancers	Fetal Intestine Small	intestine
4	chr22:30511200-30514400	Enhancers	Fetal Intestine Large	intestine
5	chr22:30511600-30513200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:30511800-30512600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:30511800-30512800	Enhancers	NHDF-Ad	bronchial
8	chr22:30511800-30513000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:30511800-30513000	Enhancers	NH-A	brain
10	chr22:30511800-30513000	Enhancers	NHLF	lung
11	chr22:30511800-30513200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:30511800-30513200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr22:30511800-30513200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:30511800-30513200	Enhancers	Osteobl	bone
15	chr22:30511800-30513400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:30511800-30513400	Enhancers	HMEC	breast
17	chr22:30511800-30513400	Enhancers	HSMM	muscle
18	chr22:30511800-30513400	Enhancers	HSMMtube	muscle
19	chr22:30512000-30512600	Enhancers	Fetal Lung	lung
20	chr22:30512000-30513400	Enhancers	NHEK	skin

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