Variant report

Variant	rs12451009
Chromosome Location	chr17:63113923-63113924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63051194..63054091-chr17:63113878..63116573,2	MCF-7	breast:
2	chr17:63104937..63106962-chr17:63110869..63114736,3	MCF-7	breast:
3	chr17:63113379..63115678-chr17:63128330..63131233,2	MCF-7	breast:
4	chr17:63113189..63115743-chr17:63122387..63125115,2	MCF-7	breast:
5	chr17:63051251..63053597-chr17:63113186..63114824,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1010271	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10853058	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10853059	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11079557	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079558	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11079559	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12450928	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12603197	0.89[JPT][hapmap];0.82[AMR][1000 genomes]
rs1530352	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1530353	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1554048	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1554049	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1561939	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs186167	0.81[EUR][1000 genomes]
rs1968573	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1968574	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28445249	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs299834	0.81[EUR][1000 genomes]
rs299835	1.00[CHB][hapmap]
rs299837	0.81[EUR][1000 genomes]
rs299838	0.80[EUR][1000 genomes]
rs429583	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.98[ASN][1000 genomes]
rs4581735	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4791231	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4791234	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7207632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207651	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7207860	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7207995	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7212241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7215779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219245	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219799	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219809	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8073607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8075179	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8080637	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8080746	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8081971	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9303478	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs986090	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs9898914	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9899243	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9899401	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9899628	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9912432	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9913707	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9913725	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63103000-63118800	Weak transcription	Aorta	Aorta
2	chr17:63103200-63118400	Weak transcription	Left Ventricle	heart
3	chr17:63103200-63118800	Weak transcription	Right Atrium	heart
4	chr17:63103400-63118600	Weak transcription	Brain Anterior Caudate	brain
5	chr17:63103400-63118600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:63103800-63118600	Weak transcription	Psoas Muscle	Psoas
7	chr17:63104000-63118600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr17:63104000-63118800	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:63104200-63118600	Weak transcription	Brain Hippocampus Middle	brain
10	chr17:63104400-63118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:63106200-63119000	Weak transcription	Fetal Lung	lung
12	chr17:63106400-63118600	Weak transcription	Adipose Nuclei	Adipose
13	chr17:63108000-63118600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:63111400-63114000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr17:63111400-63114000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:63112400-63118200	Weak transcription	K562	blood
17	chr17:63112400-63118600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr17:63112400-63119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:63113200-63114000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr17:63113200-63114200	Enhancers	Pancreas	Pancrea
21	chr17:63113400-63114200	Enhancers	Duodenum Mucosa	Duodenum
22	chr17:63113400-63118200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr17:63113600-63117600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:63113800-63114200	Enhancers	Liver	Liver
25	chr17:63113800-63116800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr17:63113800-63117400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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