Variant report

Variant	rs7603795
Chromosome Location	chr2:189749042-189749043
allele	G/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]
rs6710225	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]
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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189739000-189755600	Weak transcription	Aorta	Aorta
2	chr2:189748200-189749400	Enhancers	NHDF-Ad	bronchial
3	chr2:189748200-189749800	Enhancers	Fetal Lung	lung
4	chr2:189748600-189749200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:189748600-189749200	Enhancers	NHLF	lung
6	chr2:189748600-189749200	Enhancers	Osteobl	bone
7	chr2:189748600-189749400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:189748600-189749400	Enhancers	Hela-S3	cervix
9	chr2:189748800-189749200	Enhancers	A549	lung
10	chr2:189748800-189749200	Enhancers	HSMM	muscle
11	chr2:189748800-189749200	Enhancers	NH-A	brain
12	chr2:189748800-189749600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:189749000-189749400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:189749000-189749800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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

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