Variant report

Variant	rs4637716
Chromosome Location	chr7:33510163-33510164
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10225698	0.84[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10230133	0.85[JPT][hapmap]
rs10247780	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10464226	0.85[ASN][1000 genomes]
rs11972278	0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12665869	0.84[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12669595	0.84[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs13241465	0.89[CHB][hapmap];0.86[CHD][hapmap]
rs1345277	0.84[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs1362228	0.89[CHB][hapmap]
rs1362230	0.89[CHB][hapmap]
rs1419898	0.88[CHD][hapmap]
rs1419900	0.95[CHB][hapmap];0.87[CHD][hapmap]
rs1419903	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419909	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs1419910	0.80[ASN][1000 genomes]
rs1419913	0.80[ASN][1000 genomes]
rs1419914	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs1419916	0.89[CHB][hapmap];0.86[CHD][hapmap]
rs1419918	0.89[CHB][hapmap]
rs1419919	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs1419921	0.88[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1419925	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1419927	0.84[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1419928	0.90[JPT][hapmap]
rs1473155	0.90[ASN][1000 genomes]
rs1544557	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs1860600	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs1894810	0.95[CHB][hapmap];0.90[CHD][hapmap]
rs2041419	0.84[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2058342	0.94[CHB][hapmap]
rs2392233	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2392234	0.90[ASN][1000 genomes]
rs2392236	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs2893469	0.94[CHB][hapmap]
rs4141012	0.89[CHB][hapmap]
rs4236337	0.89[CHB][hapmap];0.85[CHD][hapmap]
rs4391315	0.80[ASN][1000 genomes]
rs4509212	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs4510745	0.89[CHB][hapmap]
rs4582453	0.95[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs4607502	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs4720118	0.84[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4720120	0.84[CHB][hapmap]
rs4723285	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4723288	0.84[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs6462477	0.84[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6462479	0.88[CHB][hapmap]
rs6958002	0.85[ASN][1000 genomes]
rs6964756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6977009	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs721851	0.95[CHB][hapmap];0.90[CHD][hapmap]
rs723300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs726463	0.95[CHB][hapmap];0.90[CHD][hapmap]
rs726464	0.95[CHB][hapmap]
rs758779	0.84[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs758780	0.84[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7785012	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs7798984	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7802888	0.90[JPT][hapmap]
rs7804731	0.87[ASN][1000 genomes]
rs7805192	0.84[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs975791	0.90[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830944	chr7:33389892-33549882	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv934287	chr7:33470390-33512880	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv933237	chr7:33470390-33574046	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv933018	chr7:33506325-33707270	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv520794	chr7:33506906-33517523	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4637716	CHN2	cis	cerebellum	SCAN
rs4637716	INMT	cis	cerebellum	SCAN
rs4637716	BBS9	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33475400-33516000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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