Variant report

Variant	rs701917
Chromosome Location	chr1:211861798-211861799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11119794	0.94[ASN][1000 genomes]
rs41275368	0.94[ASN][1000 genomes]
rs60293324	0.94[ASN][1000 genomes]
rs6661565	0.94[ASN][1000 genomes]
rs697003	0.84[EUR][1000 genomes]
rs701926	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs701929	0.85[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	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs701917	NEK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211859600-211868000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:211859600-211872000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:211860000-211865000	Weak transcription	HepG2	liver
4	chr1:211860600-211862000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:211860800-211861800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:211860800-211862000	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:211860800-211862000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:211860800-211862200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:211860800-211862200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:211861000-211862000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:211861000-211862200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:211861200-211862000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:211861200-211862200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:211861200-211862200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:211861400-211861800	Enhancers	Fetal Thymus	thymus
16	chr1:211861400-211862000	Enhancers	GM12878-XiMat	blood
17	chr1:211861400-211862200	Enhancers	Primary T helper naive 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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