Variant report

Variant	rs2132804
Chromosome Location	chr4:76174868-76174869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10000494	0.95[ASN][1000 genomes]
rs10006152	0.95[ASN][1000 genomes]
rs10006801	0.96[ASN][1000 genomes]
rs10021538	0.80[ASN][1000 genomes]
rs10033452	0.88[ASN][1000 genomes]
rs11099467	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11099468	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11722701	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725912	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13102259	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13102557	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1497205	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497206	0.95[ASN][1000 genomes]
rs1497207	0.95[ASN][1000 genomes]
rs1497226	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1506592	0.96[ASN][1000 genomes]
rs1506593	0.95[ASN][1000 genomes]
rs1874585	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132800	0.87[ASN][1000 genomes]
rs2132806	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28682501	0.95[ASN][1000 genomes]
rs55950539	0.95[ASN][1000 genomes]
rs6535241	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6811197	0.82[ASN][1000 genomes]
rs6814143	0.92[ASN][1000 genomes]
rs6848890	0.96[ASN][1000 genomes]
rs6850048	0.95[ASN][1000 genomes]
rs6851300	0.96[ASN][1000 genomes]
rs6854668	0.87[ASN][1000 genomes]
rs6857874	0.89[ASN][1000 genomes]
rs6858597	0.95[ASN][1000 genomes]
rs7656435	0.96[ASN][1000 genomes]
rs7658434	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670647	0.95[ASN][1000 genomes]
rs7673324	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676316	0.90[ASN][1000 genomes]
rs7677215	0.96[ASN][1000 genomes]
rs7681167	0.96[ASN][1000 genomes]
rs7689597	0.95[ASN][1000 genomes]
rs7691721	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76173000-76175400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:76173000-76175400	Enhancers	HUVEC	blood vessel
3	chr4:76173800-76175400	Enhancers	Fetal Intestine Large	intestine
4	chr4:76174000-76185200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:76174200-76177600	Enhancers	Colon Smooth Muscle	Colon
6	chr4:76174800-76175200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:76174800-76175400	Enhancers	Hela-S3	cervix
8	chr4:76174800-76176000	Enhancers	Colonic Mucosa	Colon
9	chr4:76174800-76176000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr4:76174800-76176200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr4:76174800-76177000	Weak transcription	Fetal Intestine Small	intestine
12	chr4:76174800-76185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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