Variant report

Variant	rs2676513
Chromosome Location	chr2:173693515-173693516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12693013	0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1559626	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2081405	0.91[AFR][1000 genomes]
rs2247800	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2357950	0.89[AMR][1000 genomes]
rs2432927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2468393	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2553000	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2553002	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2553003	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2676509	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433381	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728688	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585729	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv961359	chr2:173691353-173695931	Weak transcription Enhancers	Chromatin interactive region	1 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	chr2:173679200-173693800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:173679200-173708800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:173686800-173693800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:173687800-173693600	Weak transcription	Left Ventricle	heart
5	chr2:173688400-173693800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:173688400-173701000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:173689200-173699200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:173689200-173723200	Weak transcription	Esophagus	oesophagus
9	chr2:173692400-173693600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:173693200-173694200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:173693400-173693800	Enhancers	Lung	lung
12	chr2:173693400-173694200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:173693400-173694200	Enhancers	Fetal Heart	heart
14	chr2:173693400-173694200	Enhancers	Placenta	Placenta
15	chr2:173693400-173694200	Enhancers	Right Atrium	heart

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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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