Variant report

Variant	rs12987596
Chromosome Location	chr2:212856539-212856540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10176432	0.87[JPT][hapmap]
rs10205159	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs1030942	0.81[ASN][1000 genomes]
rs1155683	0.91[JPT][hapmap]
rs12473886	0.91[JPT][hapmap]
rs12991396	0.93[ASW][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.98[LWK][hapmap];0.88[MKK][hapmap];0.86[YRI][hapmap]
rs12994785	0.88[CEU][hapmap]
rs1357124	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1402714	0.87[JPT][hapmap]
rs17336942	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2049164	0.81[CHD][hapmap]
rs2860059	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4672630	0.91[JPT][hapmap]
rs4673645	0.81[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4673646	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs7558696	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7563378	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs9288445	0.82[CHD][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv834525	chr2:212693190-212860356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875791	chr2:212824999-212874828	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875792	chr2:212824999-212896571	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584343	chr2:212830200-212906355	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv875793	chr2:212842777-212866473	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	nsv875794	chr2:212842777-212885510	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
11	nsv875795	chr2:212845292-212868624	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv875796	chr2:212845292-212874828	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
13	nsv875797	chr2:212847605-212888988	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
14	nsv470513	chr2:212852669-212874828	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
15	nsv875798	chr2:212852669-212961992	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv875799	chr2:212856539-212874828	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
17	nsv875800	chr2:212856539-212896571	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv875801	chr2:212856539-212929014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12987596	VWC2L	cis	parietal	SCAN

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

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dbSNP/dbVar ID: rs12345 /nsv7879
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