Variant report

Variant	rs7696477
Chromosome Location	chr4:91287152-91287153
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr4:91286934-91287234	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RN7SKP248	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10000742	0.87[ASN][1000 genomes]
rs1000522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[ASN][1000 genomes]
rs10026538	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.99[ASN][1000 genomes]
rs10516870	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[ASN][1000 genomes]
rs10516871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[ASN][1000 genomes]
rs11097247	1.00[YRI][hapmap]
rs11097248	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.81[MEX][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11097249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11931167	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.99[ASN][1000 genomes]
rs11943289	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12642565	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.99[ASN][1000 genomes]
rs1381352	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1381353	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1461736	0.82[ASN][1000 genomes]
rs1461737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17016912	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17016931	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17016933	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.86[YRI][hapmap]
rs17016970	0.99[ASN][1000 genomes]
rs17016974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1841623	0.84[YRI][hapmap];0.98[ASN][1000 genomes]
rs1903576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1903577	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs1973143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1973145	0.99[ASN][1000 genomes]
rs1973146	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs2085915	0.82[LWK][hapmap];0.89[YRI][hapmap]
rs2169398	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[ASN][1000 genomes]
rs28433487	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28472641	0.95[ASN][1000 genomes]
rs28476593	0.99[ASN][1000 genomes]
rs28545715	0.95[ASN][1000 genomes]
rs2870247	0.99[ASN][1000 genomes]
rs58105555	0.90[ASN][1000 genomes]
rs62312911	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62312912	0.99[ASN][1000 genomes]
rs6824866	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs6842950	0.81[LWK][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs6848509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6848630	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6848807	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6849224	0.99[ASN][1000 genomes]
rs6851151	0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs72883342	0.99[ASN][1000 genomes]
rs7434494	0.89[ASN][1000 genomes]
rs7656195	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656237	0.98[ASN][1000 genomes]
rs7696173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs9307083	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9307084	0.94[ASN][1000 genomes]
rs9884875	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9996798	0.99[ASN][1000 genomes]
rs9998809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007826	chr4:91049593-91438961	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537177	chr4:91049593-91438961	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv999065	chr4:91049593-91520073	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv879542	chr4:91185206-91287204	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2763804	chr4:91261413-91291516	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv1006975	chr4:91268174-91298909	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv1831446	chr4:91283134-91291516	Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
10	esv1827765	chr4:91283146-91291516	Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
11	esv1829133	chr4:91286902-91292403	Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
12	esv1825166	chr4:91287152-91291516	Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
13	esv1832048	chr4:91287152-91291516	Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7696477	IBSP	cis	parietal	SCAN
rs7696477	FAM190A	cis	cerebellum	SCAN

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

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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