Variant report

Variant	rs1992988
Chromosome Location	chr7:112587413-112587414
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	chr7:112579376..112581874-chr7:112583714..112588388,6	K562	blood:
2	chr7:112579425..112581874-chr7:112585299..112587492,4	K562	blood:

Variant related genes	Relation type
ENSG00000164603	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10238492	0.82[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs10243834	0.93[ASN][1000 genomes]
rs10249952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10272143	0.93[ASN][1000 genomes]
rs10275208	0.84[CEU][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.90[ASN][1000 genomes]
rs10280618	0.83[ASN][1000 genomes]
rs10280825	0.83[ASN][1000 genomes]
rs1044262	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10500014	0.89[ASN][1000 genomes]
rs11762737	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.93[ASN][1000 genomes]
rs11768408	0.83[ASW][hapmap];0.91[CEU][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768787	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.93[ASN][1000 genomes]
rs12535487	0.82[CHD][hapmap]
rs1530756	0.84[CEU][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.90[ASN][1000 genomes]
rs17160078	0.91[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17405723	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976897	1.00[ASN][1000 genomes]
rs2396570	0.91[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs2396583	0.83[ASN][1000 genomes]
rs35983930	0.89[ASN][1000 genomes]
rs3957315	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs3997335	1.00[CHB][hapmap]
rs62472534	0.82[ASN][1000 genomes]
rs62472536	0.89[ASN][1000 genomes]
rs62491096	0.90[ASN][1000 genomes]
rs62491097	1.00[ASN][1000 genomes]
rs62491099	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466423	0.83[ASN][1000 genomes]
rs6944843	0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs73196926	0.89[ASN][1000 genomes]
rs7781871	0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs7789589	0.80[ASN][1000 genomes]
rs7806781	1.00[JPT][hapmap]
rs7808616	0.84[CEU][hapmap];1.00[JPT][hapmap];0.83[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	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	esv1795316	chr7:112577657-112588734	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	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
8	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
rs1992988	CAV2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112581000-112593800	Weak transcription	Left Ventricle	heart

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