Variant report

Variant	rs6748881
Chromosome Location	chr2:40541915-40541916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11888123	0.82[EUR][1000 genomes]
rs11904139	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1477001	0.82[ASN][1000 genomes]
rs1990608	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2110744	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2160236	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2160237	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952402	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6544315	0.83[ASN][1000 genomes]
rs6544316	0.83[ASN][1000 genomes]
rs6544317	0.83[ASN][1000 genomes]
rs6544318	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs759384	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs998260	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40531800-40542600	Weak transcription	Osteobl	bone
2	chr2:40532000-40544800	Weak transcription	HSMM	muscle
3	chr2:40532000-40551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:40532200-40542400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:40533800-40543800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:40534000-40543000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:40535600-40542600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:40538000-40552000	Weak transcription	Left Ventricle	heart
9	chr2:40540000-40544000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:40540400-40542000	Enhancers	Fetal Heart	heart
11	chr2:40541200-40543200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr2:40541400-40543600	ZNF genes & repeats	Dnd41	blood
13	chr2:40541800-40543200	Strong transcription	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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