Variant report

Variant	rs7518536
Chromosome Location	chr1:70585175-70585176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:70585056-70585363	HepG2	liver:	n/a	chr1:70585214-70585231
2	MAFK	chr1:70585054-70585372	HepG2	liver:	n/a	chr1:70585214-70585231
3	MAFF	chr1:70585159-70585317	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:70579819..70586135-chr1:70587116..70591228,8	K562	blood:
2	chr1:70584648..70587112-chr1:70591147..70593894,2	K562	blood:
3	chr1:70584345..70586135-chr1:70587754..70589321,2	K562	blood:

Variant related genes	Relation type
LRRC7	TF binding region
ENSG00000033122	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1009125	1.00[CEU][hapmap]
rs10493469	1.00[CEU][hapmap]
rs10493470	1.00[CEU][hapmap]
rs10493471	1.00[CEU][hapmap]
rs10493472	1.00[CEU][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11799572	1.00[CEU][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11810684	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11810719	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11810721	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1353467	1.00[CEU][hapmap]
rs1590724	1.00[CEU][hapmap]
rs17131177	0.91[CEU][hapmap]
rs17131182	1.00[CEU][hapmap]
rs17131183	1.00[CEU][hapmap]
rs17131186	0.91[CEU][hapmap]
rs17131190	1.00[CEU][hapmap]
rs17131191	1.00[CEU][hapmap]
rs17131193	1.00[CEU][hapmap]
rs17131196	0.91[CEU][hapmap]
rs17131201	0.91[CEU][hapmap]
rs17131204	1.00[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17131207	0.90[CEU][hapmap];0.86[AMR][1000 genomes]
rs17131208	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17131209	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17131212	0.91[CEU][hapmap]
rs17131214	0.86[AMR][1000 genomes]
rs17131215	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17131217	0.91[CEU][hapmap];0.82[AMR][1000 genomes]
rs17131218	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17131219	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17131220	1.00[CEU][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17131223	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17357463	0.83[CEU][hapmap];0.82[AMR][1000 genomes]
rs2031710	1.00[CEU][hapmap]
rs2101889	1.00[CEU][hapmap]
rs2220958	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2220959	1.00[CEU][hapmap]
rs28537484	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3738119	0.91[CEU][hapmap]
rs3767209	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3767210	0.83[CEU][hapmap];0.82[AMR][1000 genomes]
rs3767211	0.83[CEU][hapmap];0.82[AMR][1000 genomes]
rs41287888	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650019	1.00[CEU][hapmap]
rs4650020	1.00[CEU][hapmap]
rs4650026	1.00[CEU][hapmap]
rs4650027	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4650028	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs487613	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55634563	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55782523	0.82[AMR][1000 genomes]
rs55970826	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55992448	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56013720	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56108385	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56194840	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56200611	0.82[AMR][1000 genomes]
rs57977150	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61784310	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61784313	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61784315	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784317	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61784318	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61784319	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61784320	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61785271	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6678316	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6679805	1.00[CEU][hapmap]
rs6690627	1.00[CEU][hapmap]
rs6694380	1.00[CEU][hapmap]
rs6696040	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs724681	0.91[CEU][hapmap]
rs74085938	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74085939	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7413084	1.00[CEU][hapmap]
rs7511650	0.91[CEU][hapmap]
rs7521532	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7552694	0.83[CEU][hapmap]
rs9970462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9970998	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70557000-70599600	Weak transcription	Fetal Brain Female	brain
2	chr1:70583800-70599600	Weak transcription	Fetal Heart	heart
3	chr1:70584600-70585400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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