Variant report

Variant	rs2930332
Chromosome Location	chr7:140367456-140367457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1106846	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11540284	0.81[EUR][1000 genomes]
rs11977567	0.86[EUR][1000 genomes]
rs28828674	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28896544	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907951	0.86[EUR][1000 genomes]
rs2907952	0.86[EUR][1000 genomes]
rs2908235	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930316	0.86[EUR][1000 genomes]
rs2930317	0.86[EUR][1000 genomes]
rs2930320	0.94[EUR][1000 genomes]
rs2930323	0.86[EUR][1000 genomes]
rs2930325	0.86[EUR][1000 genomes]
rs2930326	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930328	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930329	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930330	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2968546	0.86[EUR][1000 genomes]
rs2968554	0.86[EUR][1000 genomes]
rs2968556	0.92[EUR][1000 genomes]
rs2968560	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969644	0.83[ASN][1000 genomes]
rs6977496	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7785630	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7802537	0.81[EUR][1000 genomes];1.00[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	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2930332	ADCK2	cis	Nerve Tibial	GTEx
rs2930332	ADCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140365800-140372000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:140367200-140367600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:140367400-140371800	Weak transcription	Placenta Amnion	Placenta Amnion

Quick Search:

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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