Variant report

Variant	rs28475180
Chromosome Location	chr7:120130683-120130684
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10245548	0.93[AFR][1000 genomes]
rs10257622	0.84[AFR][1000 genomes]
rs17142775	0.95[AFR][1000 genomes]
rs2402528	0.87[EUR][1000 genomes]
rs28613778	0.87[EUR][1000 genomes]
rs4370473	0.90[EUR][1000 genomes]
rs56159883	0.90[EUR][1000 genomes]
rs73433843	0.90[EUR][1000 genomes]
rs73435890	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv889116	chr7:120098304-120180671	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv889117	chr7:120122040-120266458	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28475180	KCND2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120121200-120131200	Weak transcription	GM12878-XiMat	blood
2	chr7:120122600-120139400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:120127800-120139400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:120127800-120141800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:120130600-120130800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:120130600-120130800	Enhancers	H9 Cell Line	embryonic stem cell

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