Variant report

Variant	rs17560847
Chromosome Location	chr12:40329615-40329616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1005956	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506140	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10784338	0.83[JPT][hapmap]
rs10784353	0.83[JPT][hapmap]
rs10784356	0.83[JPT][hapmap]
rs10784359	0.91[JPT][hapmap]
rs10784369	0.83[JPT][hapmap]
rs10877835	0.84[ASW][hapmap]
rs10877891	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10877990	0.83[JPT][hapmap]
rs10878049	0.91[JPT][hapmap]
rs10878089	0.91[JPT][hapmap]
rs11174478	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11174609	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs11175024	0.91[JPT][hapmap]
rs12813098	0.91[JPT][hapmap]
rs12823555	0.91[JPT][hapmap]
rs1586038	0.83[JPT][hapmap]
rs1600866	0.83[JPT][hapmap]
rs2128277	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs2404352	0.83[JPT][hapmap]
rs2896825	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs3925535	0.91[JPT][hapmap]
rs4625545	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs4767956	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768200	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768204	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs530602	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs6581504	0.91[JPT][hapmap]
rs716268	0.91[JPT][hapmap]
rs7313209	0.91[JPT][hapmap]
rs7313231	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7953129	0.83[JPT][hapmap]
rs7954875	0.83[JPT][hapmap]
rs7959498	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7960662	0.83[JPT][hapmap]
rs7970812	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs9669240	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2757500	chr12:40299913-40331853	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv2759895	chr12:40299913-40331853	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv8967	chr12:40327912-40330937	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40323600-40337800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:40326400-40330800	Weak transcription	Liver	Liver
3	chr12:40327400-40330600	Weak transcription	Aorta	Aorta
4	chr12:40328200-40332000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr12:40328800-40329800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:40328800-40330400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:40329200-40329800	Enhancers	Osteobl	bone
8	chr12:40329400-40329800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:40329400-40329800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:40329400-40330000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr12:40329600-40330000	Enhancers	Ovary	ovary
12	chr12:40329600-40330600	Weak transcription	K562	blood
13	chr12:40329600-40339800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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