Variant report

Variant	rs999494
Chromosome Location	chr2:73157395-73157396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73156426..73159049-chr2:73199011..73201111,2	MCF-7	breast:
2	chr2:73120386..73123296-chr2:73155183..73157726,2	MCF-7	breast:
3	chr2:73155127..73158016-chr2:73158536..73161667,4	MCF-7	breast:
4	chr2:73150450..73152799-chr2:73155777..73158715,2	MCF-7	breast:
5	chr2:73150258..73153169-chr2:73155891..73159303,4	K562	blood:
6	chr2:73150258..73153169-chr2:73155891..73157789,2	K562	blood:
7	chr2:73146174..73148965-chr2:73155381..73157789,2	MCF-7	breast:
8	chr2:73151599..73154763-chr2:73155312..73159264,4	MCF-7	breast:
9	chr2:72347829..72350324-chr2:73155970..73158917,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10183113	0.85[JPT][hapmap]
rs10185826	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10196456	0.85[JPT][hapmap]
rs1048704	0.85[JPT][hapmap]
rs12473812	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12713779	1.00[JPT][hapmap]
rs17008495	0.85[ASN][1000 genomes]
rs17008501	0.85[JPT][hapmap]
rs1898442	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2077586	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2164733	0.85[JPT][hapmap]
rs2421097	0.86[JPT][hapmap]
rs34419497	0.91[ASN][1000 genomes]
rs56986198	0.91[ASN][1000 genomes]
rs6722190	0.86[JPT][hapmap]
rs6748324	0.85[JPT][hapmap]
rs746212	0.88[ASN][1000 genomes]
rs755409	0.85[JPT][hapmap]

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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs999494	MPHOSPH10	cis	cerebellum	SCAN
rs999494	NAGK	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73154000-73158200	Weak transcription	Fetal Brain Female	brain
2	chr2:73156600-73158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:73157000-73163200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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