Variant report

Variant	rs1485307
Chromosome Location	chr8:120007395-120007396
allele	A/G
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	POLR2A	chr8:120007343-120007725	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr8:120007315-120007924	SK-N-SH	brain:	n/a	chr8:120007673-120007682 chr8:120007669-120007685
3	MEF2A	chr8:120007267-120007947	SK-N-SH	brain:	n/a	chr8:120007521-120007535 chr8:120007516-120007537 chr8:120007523-120007534 chr8:120007516-120007537
4	MEF2A	chr8:120007235-120007854	SK-N-SH	brain:	n/a	chr8:120007521-120007535 chr8:120007516-120007537 chr8:120007523-120007534 chr8:120007516-120007537

Variant related genes	Relation type
COLEC10	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10505351	0.84[EUR][1000 genomes]
rs10955924	0.82[EUR][1000 genomes]
rs11995824	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13254554	0.84[EUR][1000 genomes]
rs13260214	0.86[EUR][1000 genomes]
rs13264172	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1385500	0.82[ASN][1000 genomes]
rs1485302	0.83[ASN][1000 genomes]
rs1485303	0.82[ASN][1000 genomes]
rs1485305	0.97[ASN][1000 genomes]
rs1825512	0.90[ASN][1000 genomes]
rs1872422	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1872423	0.82[EUR][1000 genomes]
rs1905783	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1905784	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2062376	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2062377	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2220189	0.84[EUR][1000 genomes]
rs28437165	0.84[EUR][1000 genomes]
rs28621599	0.84[EUR][1000 genomes]
rs4273881	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4335155	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4403441	0.83[EUR][1000 genomes]
rs4416847	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4424291	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4424296	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4495461	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4567065	0.89[EUR][1000 genomes]
rs4587360	0.96[ASN][1000 genomes]
rs4615609	0.84[EUR][1000 genomes]
rs4618726	0.84[EUR][1000 genomes]
rs6469792	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469795	0.83[EUR][1000 genomes]
rs6469797	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6993813	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004052	0.83[EUR][1000 genomes]
rs7010043	0.84[EUR][1000 genomes]
rs7013722	0.83[EUR][1000 genomes]
rs7813486	0.83[EUR][1000 genomes]
rs7824837	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842942	0.89[EUR][1000 genomes]
rs9650075	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv522241	chr8:119995697-120027871	Weak transcription Enhancers	TF binding region CpG island	2 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	chr8:120006400-120008400	Enhancers	Fetal Heart	heart
2	chr8:120006800-120007400	Enhancers	HSMMtube	muscle
3	chr8:120006800-120008000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:120006800-120008200	Enhancers	Osteobl	bone
5	chr8:120007000-120007800	Weak transcription	Right Ventricle	heart
6	chr8:120007000-120013600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:120007200-120008000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:120007200-120008000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:120007200-120008000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:120007200-120008000	Enhancers	NHLF	lung
11	chr8:120007200-120008400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:120007200-120008400	Enhancers	NH-A	brain

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