Variant report

Variant	rs10500014
Chromosome Location	chr7:112603987-112603988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112602086..112604534-chr7:112611738..112613298,2	K562	blood:
2	chr7:112601365..112604036-chr7:112606772..112610926,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10238492	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs10243834	0.82[ASN][1000 genomes]
rs10249952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10272143	0.82[ASN][1000 genomes]
rs10275208	0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1044262	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11762737	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11768408	0.88[CHD][hapmap];0.89[ASN][1000 genomes]
rs11768787	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12535487	0.83[CHD][hapmap]
rs1530756	0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17160078	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17405723	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1976897	0.89[ASN][1000 genomes]
rs1992988	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2396570	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs35983930	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3957315	1.00[JPT][hapmap]
rs3997335	1.00[CHB][hapmap]
rs62491096	0.80[ASN][1000 genomes]
rs62491097	0.89[ASN][1000 genomes]
rs62491099	0.89[ASN][1000 genomes]
rs6944843	0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs73196926	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781871	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7789589	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7806781	1.00[JPT][hapmap]
rs7808616	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3692941	chr7:112571420-112614215	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv1027981	chr7:112577657-112613212	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv1020911	chr7:112581515-112615249	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10500014	CAV2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112594200-112630400	Weak transcription	Left Ventricle	heart
2	chr7:112603400-112605200	Enhancers	Fetal Heart	heart
3	chr7:112603600-112614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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