Variant report

Variant	rs7682487
Chromosome Location	chr4:76213086-76213087
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76210768..76213178-chr4:76214495..76216137,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10007059	0.84[ASN][1000 genomes]
rs10014607	0.91[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10020446	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10023045	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10023141	0.86[ASN][1000 genomes]
rs10025653	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10031854	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11099494	0.92[ASN][1000 genomes]
rs11727857	0.96[ASN][1000 genomes]
rs12507752	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12642778	0.94[ASN][1000 genomes]
rs1353605	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1391017	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1497215	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995094	0.91[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1995635	0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28447214	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28488918	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34605885	0.82[EUR][1000 genomes]
rs4116264	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4116265	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4146486	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4146487	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4241624	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859954	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4859955	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55659338	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59834403	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6535270	0.95[ASN][1000 genomes]
rs6841114	0.86[ASN][1000 genomes]
rs7662192	0.82[EUR][1000 genomes]
rs7667892	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7672760	0.92[ASN][1000 genomes]
rs7682650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv1005324	chr4:75689880-76233555	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv537142	chr4:75689880-76233555	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1010552	chr4:76064415-76325430	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv998511	chr4:76184807-76398377	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv2763368	chr4:76190070-76387413	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv461557	chr4:76212995-76363477	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv594688	chr4:76212995-76363477	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7682487	RCHY1	cis	cerebellum	SCAN
rs7682487	STBD1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76211200-76213400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr4:76211800-76213600	Enhancers	Fetal Intestine Large	intestine
3	chr4:76211800-76213600	Enhancers	Fetal Intestine Small	intestine
4	chr4:76212800-76213600	Enhancers	Rectal Mucosa Donor 29	rectum

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