Variant report

Variant	rs2342597
Chromosome Location	chr3:99242621-99242622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

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	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2342466	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2342598	1.00[AFR][1000 genomes]
rs2342600	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2669979	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2669982	0.97[AFR][1000 genomes]
rs2700598	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4928136	1.00[EUR][1000 genomes]
rs6440676	1.00[EUR][1000 genomes]
rs7627667	1.00[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	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
4	esv2572173	chr3:99242379-99245339	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99228400-99243000	Weak transcription	Aorta	Aorta
2	chr3:99239600-99243000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:99241800-99245800	Weak transcription	Fetal Heart	heart
4	chr3:99242000-99243400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:99242200-99243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:99242400-99243400	Enhancers	NHDF-Ad	bronchial
7	chr3:99242600-99246000	Weak transcription	HSMMtube	muscle
8	chr3:99242600-99254000	Weak transcription	HUVEC	blood vessel

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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