Variant report

Variant	rs7698678
Chromosome Location	chr4:7560147-7560148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10014162	0.89[ASN][1000 genomes]
rs10470723	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs10937836	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11721353	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs11723455	0.80[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11736943	0.87[ASN][1000 genomes]
rs11937027	0.80[CEU][hapmap];1.00[CHD][hapmap];0.80[ASN][1000 genomes]
rs13119421	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16840505	0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28468677	0.93[ASN][1000 genomes]
rs28519697	0.91[ASN][1000 genomes]
rs28703787	0.91[ASN][1000 genomes]
rs34030222	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34289744	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34445288	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34861707	0.92[ASN][1000 genomes]
rs34996971	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35260897	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35707377	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35789691	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36106587	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4290892	0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4339212	0.80[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4365723	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4591607	0.92[ASN][1000 genomes]
rs4596239	0.87[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4637403	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4689138	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs4689139	0.87[ASN][1000 genomes]
rs4689779	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55881020	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56345748	0.92[ASN][1000 genomes]
rs6815897	0.92[ASN][1000 genomes]
rs6835393	0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6839110	0.91[ASN][1000 genomes]
rs71601859	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71601860	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71601861	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71601862	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73084716	0.87[ASN][1000 genomes]
rs73214654	0.87[ASN][1000 genomes]
rs7677330	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7689754	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs870012	0.92[ASN][1000 genomes]
rs870013	0.93[CEU][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs871938	0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs871942	0.92[ASN][1000 genomes]
rs874235	0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs882266	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs882267	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv963584	chr4:7558948-7562043	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7698678	EVC2	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7558200-7565400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:7558800-7560200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:7558800-7560200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:7559000-7560400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:7559400-7560400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:7559800-7560600	Weak transcription	HepG2	liver
7	chr4:7559800-7562600	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links