Variant report

Variant	rs7119498
Chromosome Location	chr11:10463108-10463109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10451018..10453193-chr11:10462043..10463802,2	K562	blood:
2	chr11:10459654..10465823-chr11:10469269..10473470,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133805	Chromatin interaction

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

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

rs_ID	r²[population]
rs10743141	0.87[ASN][1000 genomes]
rs10840419	0.81[JPT][hapmap]
rs11042789	0.87[ASN][1000 genomes]
rs11604833	0.95[JPT][hapmap]
rs1450274	0.89[ASN][1000 genomes]
rs2071020	0.90[JPT][hapmap]
rs3741044	0.85[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.87[ASN][1000 genomes]
rs4909932	0.81[CHB][hapmap]
rs4910133	0.89[ASN][1000 genomes]
rs4910141	0.81[CHB][hapmap]
rs6484290	0.94[JPT][hapmap]
rs7103886	0.84[ASN][1000 genomes]
rs763471	0.85[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.81[ASN][1000 genomes]
rs899010	0.90[JPT][hapmap]
rs899011	0.81[CHB][hapmap]
rs899013	0.81[CHB][hapmap]
rs9666586	0.88[ASN][1000 genomes]
rs9971562	1.00[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7119498	AMPD3	cis	parietal	SCAN
rs7119498	OR10A6	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10457600-10471800	Weak transcription	NHDF-Ad	bronchial
2	chr11:10459400-10465600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:10460400-10463600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr11:10460400-10464800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:10461400-10463600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:10462400-10463400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:10462400-10463400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:10462600-10463400	Enhancers	NH-A	brain
9	chr11:10462600-10464000	Enhancers	Primary T cells from cord blood	blood
10	chr11:10462600-10464600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:10462600-10467400	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:10462600-10467600	Enhancers	Fetal Thymus	thymus
13	chr11:10462800-10463800	Enhancers	HSMMtube	muscle
14	chr11:10462800-10464400	Enhancers	GM12878-XiMat	blood
15	chr11:10462800-10467600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:10463000-10463600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:10463000-10463800	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:10463000-10464600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:10463000-10467000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:10463000-10467000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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