Variant report

Variant	rs2402528
Chromosome Location	chr7:120044238-120044239
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28475180	0.87[EUR][1000 genomes]
rs28613778	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4370473	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56159883	0.97[EUR][1000 genomes]
rs73432000	0.87[EUR][1000 genomes]
rs73433843	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024920	chr7:120002420-120083753	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv516686	chr7:120015843-120223084	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1026821	chr7:120020317-120190437	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2402528	KCND2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120041600-120044800	Enhancers	NHEK	skin
2	chr7:120042000-120044600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:120042200-120044800	Enhancers	Hela-S3	cervix
4	chr7:120042600-120044800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:120043000-120044400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:120043200-120075000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:120043400-120044600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr7:120043600-120044600	Weak transcription	HUVEC	blood vessel
9	chr7:120043800-120044400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:120044200-120044600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:120044200-120044600	Enhancers	Stomach Mucosa	stomach
12	chr7:120044200-120044600	Flanking Active TSS	GM12878-XiMat	blood

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

what's new

Quick links