Variant report

Variant	rs62525710
Chromosome Location	chr8:87757568-87757569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:87757464-87757607	SH-SY5Y	brain:	n/a	n/a
2	FOSL1	chr8:87756898-87757574	HCT-116	colon:	n/a	n/a
3	JUND	chr8:87757029-87757572	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
CNGB3	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10085929	0.84[ASN][1000 genomes]
rs10107915	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10109425	0.83[ASN][1000 genomes]
rs10447974	0.91[EUR][1000 genomes]
rs10504827	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774141	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11785126	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544347	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12549955	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1441237	0.93[EUR][1000 genomes]
rs1458115	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1458118	0.87[EUR][1000 genomes]
rs1458130	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1458131	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1458133	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16917400	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16917435	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2957793	0.87[EUR][1000 genomes]
rs4960988	0.83[EUR][1000 genomes]
rs59899435	0.90[EUR][1000 genomes]
rs62525739	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6990710	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6999648	0.87[EUR][1000 genomes]
rs7460478	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs978132	0.87[EUR][1000 genomes]
rs978133	0.87[EUR][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	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv891151	chr8:87690019-87776019	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1026794	chr8:87698639-87957840	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539662	chr8:87698639-87957840	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv817372	chr8:87746712-88292389	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1015760	chr8:87750555-88304604	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87754400-87758000	Enhancers	Colon Smooth Muscle	Colon
2	chr8:87756600-87758000	Enhancers	HUVEC	blood vessel
3	chr8:87756800-87757800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:87757000-87757800	Enhancers	Rectal Smooth Muscle	rectum
5	chr8:87757200-87757800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:87757200-87757800	Enhancers	Aorta	Aorta
7	chr8:87757200-87757800	Enhancers	Brain Hippocampus Middle	brain
8	chr8:87757200-87757800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:87757200-87757800	Enhancers	Fetal Lung	lung
10	chr8:87757400-87757600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr8:87757400-87758000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:87757400-87758000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr8:87757400-87758200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:87757400-87758600	Enhancers	Fetal Stomach	stomach

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