Variant report

Variant	rs1317814
Chromosome Location	chr11:120484810-120484811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11217924	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12274778	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1316812	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1317815	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17245580	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4375451	0.80[EUR][1000 genomes]
rs4935743	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4935744	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs4936528	0.92[EUR][1000 genomes]
rs4936533	0.80[EUR][1000 genomes]
rs56763747	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58047799	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59127761	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60787798	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61900926	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7131215	0.91[EUR][1000 genomes]
rs73002644	0.92[EUR][1000 genomes]
rs73002650	0.92[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120480200-120487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:120480200-120489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:120483200-120485000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:120483200-120485000	Flanking Active TSS	GM12878-XiMat	blood
5	chr11:120483400-120485000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:120483400-120485200	Enhancers	Fetal Intestine Large	intestine
7	chr11:120483400-120485400	Enhancers	Ovary	ovary
8	chr11:120483600-120485400	Enhancers	Placenta	Placenta
9	chr11:120484000-120485000	Enhancers	Fetal Lung	lung
10	chr11:120484200-120485000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:120484200-120485000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:120484400-120485000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:120484400-120485000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr11:120484600-120486600	Weak transcription	Spleen	Spleen
15	chr11:120484800-120507400	Weak transcription	Right Atrium	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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