Variant report

Variant	rs12360734
Chromosome Location	chr11:83959179-83959180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:83951528..83953158-chr11:83957231..83960545,3	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10160220	1.00[JPT][hapmap]
rs10501554	0.82[CEU][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs10501556	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs10501561	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10792757	1.00[JPT][hapmap]
rs10898221	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898229	1.00[JPT][hapmap]
rs10898230	1.00[JPT][hapmap]
rs10898231	1.00[JPT][hapmap]
rs10898233	1.00[JPT][hapmap]
rs11233910	1.00[CEU][hapmap]
rs11233914	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs11233916	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs11233921	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs11233925	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11233926	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11233929	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11233938	0.84[EUR][1000 genomes]
rs11233966	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11233968	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11233969	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11233970	1.00[ASN][1000 genomes]
rs11234001	1.00[JPT][hapmap]
rs12274848	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12277167	1.00[JPT][hapmap]
rs12283368	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12286690	1.00[JPT][hapmap]
rs1559855	1.00[JPT][hapmap]
rs17147295	1.00[JPT][hapmap]
rs17499309	1.00[YRI][hapmap]
rs17563401	1.00[CEU][hapmap]
rs17563429	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs1945829	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs7106126	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs7111688	1.00[JPT][hapmap]
rs7927940	0.82[CEU][hapmap]
rs7928075	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039924	chr11:83662904-83993497	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv541102	chr11:83662904-83993497	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv415	chr11:83924941-83969603	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12360734	MMP20	trans	lymphoblastoid	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83945400-83961200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:83954600-83960200	Enhancers	Liver	Liver
3	chr11:83955600-83959600	Enhancers	Brain Hippocampus Middle	brain
4	chr11:83956200-83960200	Weak transcription	GM12878-XiMat	blood
5	chr11:83957200-83959800	Weak transcription	Aorta	Aorta
6	chr11:83957600-83959600	Enhancers	Brain Anterior Caudate	brain
7	chr11:83957800-83959400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:83958200-83959200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:83958200-83961200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:83958400-83959200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:83958600-83961200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:83958800-83959200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:83958800-83959200	Weak transcription	Brain Substantia Nigra	brain
14	chr11:83958800-83960800	Weak transcription	Brain Angular Gyrus	brain
15	chr11:83959000-83959200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:83959000-83959200	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:83959000-83959200	Enhancers	Brain Germinal Matrix	brain
18	chr11:83959000-83959400	Enhancers	Muscle Satellite Cultured Cells	--

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