Variant report

Variant	rs1372683
Chromosome Location	chr1:166554021-166554022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166541145..166543068-chr1:166552578..166555523,2	K562	blood:
2	chr1:166553441..166555941-chr1:166692722..166694602,2	K562	blood:
3	chr1:166552002..166554385-chr1:166564291..166566907,2	K562	blood:
4	chr1:166538818..166541010-chr1:166552416..166555173,2	K562	blood:
5	chr1:166552621..166555359-chr1:166806304..166809167,2	K562	blood:

Variant related genes	Relation type
ENSG00000143157	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10737530	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1372684	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1442500	0.88[CEU][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1561844	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1899440	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs479799	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs480753	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs486610	0.84[EUR][1000 genomes]
rs487459	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs488358	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs488426	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs489060	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs489144	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs491814	0.87[EUR][1000 genomes]
rs496879	0.91[EUR][1000 genomes]
rs502551	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs503909	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs509587	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs510383	0.88[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs513797	0.87[EUR][1000 genomes]
rs513884	0.83[EUR][1000 genomes]
rs521580	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs526625	1.00[CEU][hapmap]
rs528088	0.91[EUR][1000 genomes]
rs529293	0.84[EUR][1000 genomes]
rs531398	1.00[CEU][hapmap]
rs534733	0.84[EUR][1000 genomes]
rs536782	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs539458	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs539548	0.91[EUR][1000 genomes]
rs549764	0.84[EUR][1000 genomes]
rs565064	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs565210	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs566146	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs569407	0.87[EUR][1000 genomes]
rs577317	1.00[CEU][hapmap]
rs579671	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6682466	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2757759	chr1:166491879-166650985	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2758975	chr1:166491879-166650985	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv872511	chr1:166505186-166590046	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv872512	chr1:166532565-166581706	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv872513	chr1:166532565-166590046	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv872514	chr1:166532565-166595209	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv872515	chr1:166532565-166595692	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv872516	chr1:166536198-166590046	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv872517	chr1:166539001-166590046	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv2756869	chr1:166543542-166601778	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv872519	chr1:166545275-166616786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv872518	chr1:166545275-166623180	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv34401	chr1:166546342-166617601	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv872520	chr1:166546851-166590046	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166552400-166554600	Enhancers	K562	blood
2	chr1:166553800-166554800	Enhancers	Fetal Heart	heart

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