Variant report

Variant	rs6424982
Chromosome Location	chr1:185389564-185389565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10737261	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10752951	0.87[EUR][1000 genomes]
rs10752952	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1997944	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4412553	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6684800	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6701364	1.00[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.96[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6424982	NPL	cis	cerebellum	SCAN
rs6424982	LAMC2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185382800-185394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:185387200-185391200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:185387800-185391600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:185388200-185391200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:185388800-185389600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:185388800-185391600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:185389000-185391000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:185389000-185391200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:185389000-185391200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:185389200-185390600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:185389200-185390800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:185389200-185391000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:185389200-185391200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:185389400-185389600	Active TSS	Primary B cells from cord blood	blood
15	chr1:185389400-185390600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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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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