Variant report

Variant	rs2121304
Chromosome Location	chr2:53263116-53263117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10198783	0.82[EUR][1000 genomes]
rs1075204	0.85[ASN][1000 genomes]
rs12053296	0.82[ASN][1000 genomes]
rs1446445	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2121302	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2357013	0.85[ASN][1000 genomes]
rs2357014	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4995220	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6718975	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72893009	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1011257	chr2:53212297-53270575	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
4	nsv874139	chr2:53216917-53277205	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
5	nsv581979	chr2:53216917-53288066	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
6	nsv874140	chr2:53218774-53277205	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
7	nsv1000235	chr2:53218841-53290638	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
8	nsv581980	chr2:53219203-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
9	nsv1014197	chr2:53219203-53290638	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
10	nsv581981	chr2:53222962-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
11	nsv581982	chr2:53256694-53295106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2121304	C2orf63	cis	cerebellum	SCAN
rs2121304	CHAC2	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53255800-53271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53260000-53263800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:53261200-53263400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:53261200-53263600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:53261200-53263600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:53262000-53263800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:53262400-53263400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:53262400-53263400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:53262600-53263800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr2:53262800-53263800	Enhancers	Adipose Nuclei	Adipose

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