Variant report

Variant	rs12111962
Chromosome Location	chr7:39839156-39839157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10231605	0.87[ASN][1000 genomes]
rs10240817	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13233709	0.81[ASN][1000 genomes]
rs1811208	0.82[ASN][1000 genomes]
rs1812038	0.80[ASN][1000 genomes]
rs2008803	0.86[ASN][1000 genomes]
rs34326443	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3873649	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4723903	0.82[ASN][1000 genomes]
rs4723906	0.86[ASN][1000 genomes]
rs6462946	0.86[ASN][1000 genomes]
rs6462948	0.87[ASN][1000 genomes]
rs71536648	0.86[ASN][1000 genomes]
rs71536651	0.91[ASN][1000 genomes]
rs73379510	0.86[ASN][1000 genomes]
rs9690392	0.80[ASN][1000 genomes]
rs9769590	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9770199	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][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	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv970820	chr7:39797964-39839303	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5708	chr7:39814330-39855535	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv887974	chr7:39827400-39956829	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv970997	chr7:39837441-39839303	Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39831000-39839800	Weak transcription	Right Ventricle	heart
2	chr7:39833200-39842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:39833600-39845000	Weak transcription	Esophagus	oesophagus
4	chr7:39838200-39841800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:39838200-39846200	Weak transcription	Fetal Intestine Large	intestine
6	chr7:39839000-39839200	Enhancers	Brain Substantia Nigra	brain
7	chr7:39839000-39839200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr7:39839000-39839400	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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