Variant report

Variant	rs4582443
Chromosome Location	chr7:21860806-21860807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1011950	0.88[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1018918	0.96[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs10226098	0.88[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10226244	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10230246	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10233760	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs10239296	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs10254975	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10255013	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs10256263	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs10258448	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs10269472	0.84[AFR][1000 genomes]
rs10270774	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10277757	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap]
rs10807808	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10950875	0.92[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs10950878	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10950879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs12700308	0.96[CEU][hapmap];0.81[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs13227947	0.81[CEU][hapmap]
rs13231851	0.96[CEU][hapmap];0.92[JPT][hapmap]
rs17145488	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1962775	0.96[CEU][hapmap];0.81[CHB][hapmap]
rs1962776	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs2014193	0.96[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs2072093	0.81[EUR][1000 genomes]
rs2189023	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs2214325	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2214326	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs3735522	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4141347	0.96[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs4722059	0.87[CEU][hapmap]
rs6461602	0.91[EUR][1000 genomes]
rs6954167	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6954728	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs6969326	0.81[CEU][hapmap]
rs6969900	0.96[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7780026	0.90[YRI][hapmap];0.93[AFR][1000 genomes]
rs7780479	0.88[CEU][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs7780746	0.96[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs7781044	0.94[ASW][hapmap];0.84[GIH][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes]
rs7787438	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs7788531	0.92[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7792944	0.96[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs7801909	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803777	0.81[EUR][1000 genomes]
rs7804316	0.88[CEU][hapmap];0.80[CHD][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs961525	1.00[JPT][hapmap]
rs9638792	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9639398	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv933320	chr7:21840543-21882825	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv520409	chr7:21860316-21861028	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4582443	C7orf46	cis	parietal	SCAN
rs4582443	IL6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21860400-21882200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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