Variant report

Variant	rs12453147
Chromosome Location	chr17:63150691-63150692
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63134560..63136303-chr17:63148966..63151804,2	MCF-7	breast:
2	chr17:63149027..63151275-chr17:63171482..63172994,2	K562	blood:
3	chr17:63146847..63149302-chr17:63150020..63152812,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12453132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12600387	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs12600391	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs12603232	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs16960673	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16960810	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs1877822	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs2014681	0.96[ASN][1000 genomes]
rs58338644	0.88[ASN][1000 genomes]
rs59622366	0.90[ASN][1000 genomes]
rs60480413	0.90[ASN][1000 genomes]
rs60814564	0.90[ASN][1000 genomes]
rs72850394	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8069964	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs884973	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9303480	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9897302	0.88[ASN][1000 genomes]
rs9900252	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63134400-63169000	Weak transcription	Colon Smooth Muscle	Colon
2	chr17:63138600-63151200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:63141000-63175200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr17:63143600-63152200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:63143600-63169400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:63144400-63150800	Weak transcription	Brain Anterior Caudate	brain
7	chr17:63145800-63155400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr17:63145800-63167000	Weak transcription	Aorta	Aorta
9	chr17:63147200-63150800	Weak transcription	Thymus	Thymus
10	chr17:63148400-63151000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:63148400-63160000	Weak transcription	Lung	lung
12	chr17:63148800-63151000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:63149400-63150800	Weak transcription	Fetal Kidney	kidney
14	chr17:63150200-63162800	Weak transcription	Fetal Stomach	stomach
15	chr17:63150400-63151000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr17:63150400-63151200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:63150400-63151600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr17:63150400-63152000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:63150400-63152000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:63150400-63156800	Enhancers	Fetal Thymus	thymus
21	chr17:63150600-63151400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:63150600-63151600	Enhancers	GM12878-XiMat	blood
23	chr17:63150600-63151800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:63150600-63152000	Enhancers	Placenta	Placenta
25	chr17:63150600-63152600	Enhancers	Dnd41	blood
26	chr17:63150600-63152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:63150600-63153000	Enhancers	Primary hematopoietic stem cells	blood

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