Variant report

Variant	rs12134610
Chromosome Location	chr1:196422826-196422827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17696477	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17700121	1.00[CHB][hapmap]
rs55847636	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12134610	CFH	cis	parietal	SCAN
rs12134610	CFHR3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196417200-196425000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:196417400-196428600	Weak transcription	Ovary	ovary
3	chr1:196420000-196460800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:196420600-196425600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:196420800-196423800	Weak transcription	Liver	Liver
6	chr1:196421000-196425000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:196421000-196433400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:196421600-196425000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:196421600-196425000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:196421800-196424800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:196421800-196433400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:196422200-196432200	Weak transcription	HUES48 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