Variant report

Variant	rs13005521
Chromosome Location	chr2:50595856-50595857
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50591468..50594291-chr2:50594747..50597422,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10048731	0.83[TSI][hapmap]
rs10181522	1.00[CEU][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs10184843	0.95[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap]
rs10188271	1.00[CEU][hapmap]
rs10191261	1.00[CEU][hapmap]
rs10201390	0.95[CEU][hapmap]
rs10203960	0.95[CEU][hapmap]
rs10205311	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10209627	0.86[EUR][1000 genomes]
rs10210660	0.90[CEU][hapmap]
rs12465784	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12467043	0.95[CEU][hapmap]
rs12475464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12475979	1.00[CEU][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12476139	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12713097	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs12713098	0.82[GIH][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs13014058	1.00[CEU][hapmap]
rs13032292	0.87[EUR][1000 genomes]
rs13032775	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs13382506	0.95[CEU][hapmap]
rs13392422	1.00[CEU][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap]
rs13421278	1.00[CEU][hapmap]
rs13430295	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs13430435	1.00[CEU][hapmap]
rs1402124	0.95[CEU][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap]
rs1402128	0.85[MKK][hapmap];0.82[YRI][hapmap]
rs1520443	1.00[CEU][hapmap]
rs1520446	0.95[CEU][hapmap];0.81[YRI][hapmap]
rs1520449	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17040569	0.84[YRI][hapmap]
rs17040600	1.00[CEU][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap]
rs1818714	1.00[CEU][hapmap]
rs1818715	1.00[CEU][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs1818716	1.00[CEU][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap]
rs1851015	0.95[CEU][hapmap]
rs2351517	0.95[CEU][hapmap]
rs4377361	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs4638832	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57564327	0.84[EUR][1000 genomes]
rs6709416	0.95[CEU][hapmap]
rs7560724	0.82[JPT][hapmap]
rs7564130	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7567375	0.95[CEU][hapmap]
rs7581097	0.95[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs939402	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv948548	chr2:50569117-50695100	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3330444	chr2:50583350-50599057	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13005521	MCFD2	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links