Variant report

Variant	rs56014517
Chromosome Location	chr2:145782608-145782609
allele	G/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:19)

rs_ID	r²[population]
rs10496971	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11689317	0.82[AMR][1000 genomes]
rs12616953	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12621647	0.80[AMR][1000 genomes]
rs13001583	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13004410	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13009916	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13010262	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13010313	0.80[AMR][1000 genomes]
rs13033869	0.85[AFR][1000 genomes]
rs1371047	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16824386	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1898732	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2381685	0.85[AFR][1000 genomes]
rs34409381	0.86[EUR][1000 genomes]
rs34948552	0.80[AMR][1000 genomes]
rs34985138	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4662413	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67969609	0.86[AMR][1000 genomes];0.84[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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145780000-145783000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:145780400-145783000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:145780400-145784200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:145780600-145787400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:145780800-145784200	Weak transcription	Fetal Lung	lung
6	chr2:145781000-145784200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:145781000-145785600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:145781200-145785800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:145781400-145784200	Weak transcription	Ovary	ovary
10	chr2:145781400-145784200	Weak transcription	HSMMtube	muscle
11	chr2:145781400-145785000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:145781600-145784000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:145781800-145784200	Enhancers	Osteobl	bone
14	chr2:145782000-145784200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:145782000-145784200	Weak transcription	NHLF	lung
16	chr2:145782000-145784400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:145782000-145784400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:145782400-145783600	Enhancers	A549	lung
19	chr2:145782600-145784800	Enhancers	NHDF-Ad	bronchial

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

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