Variant report

Variant	rs11885510
Chromosome Location	chr2:180793502-180793503
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:17)

rs_ID	r²[population]
rs11885126	0.83[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11891760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895445	0.83[AFR][1000 genomes]
rs11903115	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867109	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867113	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867118	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867124	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867127	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867130	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867134	0.84[YRI][hapmap];0.87[AFR][1000 genomes]
rs3934054	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58024677	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58408527	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58896105	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59814364	0.88[AFR][1000 genomes];1.00[AMR][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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521134	chr2:180746041-180848488	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:180783800-180811800	Weak transcription	Left Ventricle	heart
2	chr2:180790400-180797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:180791800-180797400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:180792000-180816400	Weak transcription	Aorta	Aorta
5	chr2:180792200-180797400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:180792200-180800600	Weak transcription	Psoas Muscle	Psoas
7	chr2:180792800-180808400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:180793200-180809400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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

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