Variant report

Variant	rs6747216
Chromosome Location	chr2:183449785-183449786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11677310	0.90[CEU][hapmap]
rs11678901	0.90[CEU][hapmap]
rs11690729	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1527878	0.94[ASN][1000 genomes]
rs17265322	0.90[CEU][hapmap]
rs17265384	0.90[CEU][hapmap]
rs17265405	0.89[CEU][hapmap]
rs17356575	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918700	0.88[ASN][1000 genomes]
rs35960621	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60420748	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6433974	0.86[CEU][hapmap]
rs6751461	0.90[CEU][hapmap]
rs72892739	0.87[EUR][1000 genomes]
rs72892758	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72892780	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894609	0.80[EUR][1000 genomes]
rs72894613	0.80[EUR][1000 genomes]
rs7563205	0.87[EUR][1000 genomes]
rs7563329	0.87[EUR][1000 genomes];0.80[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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv875479	chr2:183442443-183482466	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875480	chr2:183442443-183489249	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183446400-183451000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:183446800-183451200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:183446800-183451800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:183447000-183451400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:183447000-183451800	Weak transcription	Osteobl	bone
6	chr2:183449200-183449800	Enhancers	Fetal Heart	heart
7	chr2:183449600-183451600	Weak transcription	NHLF	lung

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