Variant report

Variant	rs694602
Chromosome Location	chr1:210507519-210507520
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12144593	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1890302	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1999890	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357432	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2357433	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4292962	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56393518	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs591238	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs613047	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs624600	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs664614	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6688459	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs684045	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs688585	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210503200-210516800	Weak transcription	Lung	lung
2	chr1:210503600-210546800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:210504200-210508200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:210504200-210512800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:210504400-210514800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:210504400-210516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:210504600-210507600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:210506600-210508000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:210506600-210514000	Weak transcription	Fetal Heart	heart
10	chr1:210506600-210515600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:210506800-210512800	Weak transcription	Primary B cells from peripheral blood	blood

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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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