Variant report

Variant	rs6710225
Chromosome Location	chr2:189748623-189748624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10048793	0.95[AFR][1000 genomes]
rs10177387	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10185102	0.92[AFR][1000 genomes]
rs10194182	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196959	0.82[AFR][1000 genomes]
rs10207990	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397537	0.95[AFR][1000 genomes]
rs13410823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56934493	0.95[AFR][1000 genomes]
rs6434300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6746832	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6752196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6760322	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7566920	0.95[AFR][1000 genomes]
rs7593672	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7593834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7603795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7607507	0.95[AFR][1000 genomes]
rs9288161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs972470	0.97[AFR][1000 genomes];1.00[AMR][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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189739000-189755600	Weak transcription	Aorta	Aorta
2	chr2:189748200-189748800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:189748200-189748800	Enhancers	Fetal Stomach	stomach
4	chr2:189748200-189749400	Enhancers	NHDF-Ad	bronchial
5	chr2:189748200-189749800	Enhancers	Fetal Lung	lung
6	chr2:189748600-189749000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:189748600-189749000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:189748600-189749000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:189748600-189749200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:189748600-189749200	Enhancers	NHLF	lung
11	chr2:189748600-189749200	Enhancers	Osteobl	bone
12	chr2:189748600-189749400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:189748600-189749400	Enhancers	Hela-S3	cervix

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

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