Variant report

Variant	rs6751528
Chromosome Location	chr2:50387243-50387244
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10169371	0.84[ASN][1000 genomes]
rs10169425	0.84[ASN][1000 genomes]
rs10181708	0.84[ASN][1000 genomes]
rs10181939	0.84[ASN][1000 genomes]
rs10188676	0.84[ASN][1000 genomes]
rs10201336	0.82[ASN][1000 genomes]
rs10203035	0.83[ASN][1000 genomes]
rs1377240	0.82[ASN][1000 genomes]
rs1402165	0.81[JPT][hapmap]
rs1452762	0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[ASN][1000 genomes]
rs1452764	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs1452765	0.84[ASN][1000 genomes]
rs1523355	0.95[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs1901702	0.90[ASN][1000 genomes]
rs1915221	0.81[JPT][hapmap]
rs1915222	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs2045004	0.84[ASN][1000 genomes]
rs2218978	0.84[ASN][1000 genomes]
rs2351152	0.80[CEU][hapmap]
rs2688889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718257	0.89[ASN][1000 genomes]
rs6723207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6731397	0.83[YRI][hapmap]
rs7586286	0.81[ASN][1000 genomes]
rs7604009	0.84[ASN][1000 genomes]
rs7607484	0.84[ASN][1000 genomes]
rs9309176	0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[ASN][1000 genomes]
rs9677302	0.95[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs970784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs973354	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs9808289	0.84[ASN][1000 genomes]

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	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	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
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6751528	KCNK12	cis	parietal	SCAN
rs6751528	CRIPT	cis	cerebellum	SCAN

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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