Variant report

Variant	rs10000494
Chromosome Location	chr4:76168631-76168632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10006152	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006801	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10021538	0.83[ASN][1000 genomes]
rs10033452	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11099470	0.82[ASN][1000 genomes]
rs11722701	0.95[ASN][1000 genomes]
rs11725912	0.95[ASN][1000 genomes]
rs12643174	0.80[AFR][1000 genomes]
rs12648574	0.83[ASN][1000 genomes]
rs13102259	0.95[ASN][1000 genomes]
rs13102557	0.86[ASN][1000 genomes]
rs1497205	0.95[ASN][1000 genomes]
rs1497206	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497226	0.96[ASN][1000 genomes]
rs1506592	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1506593	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845987	0.80[ASN][1000 genomes]
rs1874585	0.95[ASN][1000 genomes]
rs2131690	0.82[ASN][1000 genomes]
rs2132800	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2132804	0.95[ASN][1000 genomes]
rs2132806	0.96[ASN][1000 genomes]
rs2172591	0.82[ASN][1000 genomes]
rs28505529	0.80[AFR][1000 genomes]
rs28654917	0.80[AFR][1000 genomes]
rs2867288	0.82[ASN][1000 genomes]
rs28682501	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28792753	0.83[ASN][1000 genomes]
rs28886695	0.83[ASN][1000 genomes]
rs55950539	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535241	0.96[ASN][1000 genomes]
rs6811197	0.85[ASN][1000 genomes]
rs6814143	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6848890	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6850048	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6851300	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6854668	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6857874	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6858597	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656435	0.99[ASN][1000 genomes]
rs7658434	0.95[ASN][1000 genomes]
rs7670647	0.98[ASN][1000 genomes]
rs7673324	0.95[ASN][1000 genomes]
rs7676316	0.93[ASN][1000 genomes]
rs7677215	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7681167	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7685095	0.81[ASN][1000 genomes]
rs7689597	0.98[ASN][1000 genomes]
rs7691721	0.95[ASN][1000 genomes]
rs9307717	0.82[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	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	esv1850883	chr4:76065572-76194403	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv594686	chr4:76139891-76212995	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv968038	chr4:76153468-76175173	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76167600-76169600	Enhancers	Rectal Smooth Muscle	rectum
2	chr4:76167800-76169000	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr4:76167800-76170400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr4:76168000-76169800	Enhancers	Colon Smooth Muscle	Colon
5	chr4:76168600-76173600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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