Variant report

Variant	rs12419784
Chromosome Location	chr11:59823461-59823462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10501381	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.96[ASN][1000 genomes]
rs10896999	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10897006	1.00[LWK][hapmap]
rs11824940	0.82[YRI][hapmap]
rs17154511	0.83[CHB][hapmap]
rs2276043	0.95[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs2276044	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4939307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61903637	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	nsv832173	chr11:59788884-59940560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv468579	chr11:59814287-59975400	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv555150	chr11:59814287-59975400	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12419784	OR8H2	cis	parietal	SCAN
rs12419784	SERPING1	cis	cerebellum	SCAN
rs12419784	SLC43A1	cis	cerebellum	SCAN
rs12419784	GTF2IRD1	trans	parietal	SCAN
rs12419784	STX5	cis	cerebellum	SCAN
rs12419784	TIMM10	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59822200-59823600	Enhancers	K562	blood
2	chr11:59822400-59826400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:59822600-59824200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:59822600-59824600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:59822600-59824600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:59822800-59832000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:59823200-59823600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:59823200-59824200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:59823400-59823800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr11:59823400-59824200	Enhancers	HUES48 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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