Variant report

Variant	rs2700598
Chromosome Location	chr3:99227437-99227438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13069464	1.00[EUR][1000 genomes]
rs1398740	1.00[EUR][1000 genomes]
rs1398746	1.00[EUR][1000 genomes]
rs1513305	1.00[EUR][1000 genomes]
rs1513308	1.00[EUR][1000 genomes]
rs1849494	1.00[EUR][1000 genomes]
rs2248892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2342466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2342597	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2342598	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs2342600	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2669979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2669982	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4928136	1.00[EUR][1000 genomes]
rs6440676	1.00[EUR][1000 genomes]
rs6763551	1.00[AMR][1000 genomes]
rs7627667	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv530026	chr3:98837320-99340537	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv3916	chr3:99186008-99232052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3422853	chr3:99208019-99342748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99224800-99227600	Weak transcription	NHLF	lung
2	chr3:99224800-99228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:99225600-99228200	Enhancers	Osteobl	bone
4	chr3:99226000-99229000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:99226200-99227800	Enhancers	NHDF-Ad	bronchial
6	chr3:99226200-99228600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:99226200-99228600	Enhancers	Adipose Nuclei	Adipose
8	chr3:99226600-99227600	Enhancers	Ovary	ovary
9	chr3:99226600-99228400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:99227000-99227600	Enhancers	Left Ventricle	heart
11	chr3:99227000-99228400	Enhancers	Aorta	Aorta
12	chr3:99227000-99228600	Enhancers	HSMM	muscle
13	chr3:99227200-99228200	Weak transcription	Right Atrium	heart
14	chr3:99227200-99228400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:99227200-99228800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:99227200-99228800	Enhancers	Fetal Heart	heart
17	chr3:99227200-99229200	Enhancers	NH-A	brain
18	chr3:99227400-99227600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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

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