Variant report

Variant	rs2490050
Chromosome Location	chr6:3862593-3862594
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10447476	0.94[EUR][1000 genomes]
rs11242887	0.87[EUR][1000 genomes]
rs11242889	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11755819	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2490034	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2490052	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490053	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490054	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490055	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496386	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9392531	0.99[EUR][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	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:3855000-3869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:3861400-3862600	Enhancers	NHEK	skin
3	chr6:3861400-3862800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:3861400-3863000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:3861600-3862600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:3861600-3862800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:3862000-3862600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:3862000-3862800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:3862000-3863000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:3862000-3865000	Weak transcription	HepG2	liver
11	chr6:3862200-3862600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:3862200-3862800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:3862200-3863000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:3862200-3868600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:3862400-3867400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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