Variant report

Variant	rs7604244
Chromosome Location	chr2:111780719-111780720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11674813	0.87[EUR][1000 genomes]
rs11687650	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17481486	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs3789071	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs3789090	0.96[CEU][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs4849345	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849346	0.88[EUR][1000 genomes]
rs57698963	0.91[EUR][1000 genomes]
rs61092429	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62161545	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62163297	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717763	0.81[TSI][hapmap]
rs7589967	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7602030	0.83[CEU][hapmap];0.85[TSI][hapmap]
rs7603798	0.96[CEU][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs893649	0.91[EUR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111770200-111786600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:111775200-111786400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:111775200-111787800	Weak transcription	Spleen	Spleen
4	chr2:111779400-111782000	Enhancers	Primary B cells from cord blood	blood
5	chr2:111779600-111782000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr2:111780000-111781600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:111780000-111782000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:111780600-111780800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:111780600-111783000	Enhancers	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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