Variant report

Variant	rs8080637
Chromosome Location	chr17:63117565-63117566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:14192209..14194452-chr17:63117160..63119159,2	MCF-7	breast:
2	chr17:63116894..63118757-chr3:37569878..37571398,2	MCF-7	breast:
3	chr17:62969930..62974223-chr17:63117213..63122121,8	MCF-7	breast:
4	chr17:63058260..63060968-chr17:63117386..63120197,2	MCF-7	breast:
5	chr17:63050818..63055787-chr17:63117380..63122567,9	MCF-7	breast:
6	chr17:63106164..63108847-chr17:63116672..63121069,3	MCF-7	breast:
7	chr17:63115166..63117706-chr6:68802720..68805491,2	MCF-7	breast:
8	chr17:63103464..63106630-chr17:63116614..63119834,3	K562	blood:
9	chr17:63098560..63101112-chr17:63116084..63117687,2	MCF-7	breast:
10	chr17:63098255..63100421-chr17:63117323..63119629,3	MCF-7	breast:
11	chr17:63117456..63119485-chr17:63168977..63171094,3	K562	blood:
12	chr17:63046304..63055748-chr17:63116888..63122496,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction
ENSG00000266598	Chromatin interaction
ENSG00000214174	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1010271	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853058	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853059	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079557	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11079558	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079559	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12450928	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12451009	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12603197	0.84[AMR][1000 genomes]
rs1530352	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530353	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561939	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1968573	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1968574	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445249	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs429583	1.00[ASN][1000 genomes]
rs4581735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791231	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4791234	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7207632	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7207651	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7207860	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7207995	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7212241	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215779	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219245	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219799	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219809	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073607	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8073924	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075179	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8081971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9898914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899628	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9912432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:35 , 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	chr17:63112400-63118200	Weak transcription	K562	blood
15	chr17:63112400-63118600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:63112400-63119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:63113400-63118200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr17:63113600-63117600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:63114000-63117600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:63114000-63118600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr17:63114200-63118400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr17:63114200-63118400	Weak transcription	Pancreas	Pancrea
23	chr17:63114200-63118600	Weak transcription	Liver	Liver
24	chr17:63116400-63118800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:63116800-63118800	Enhancers	Fetal Thymus	thymus
26	chr17:63116800-63118800	Enhancers	HepG2	liver
27	chr17:63117200-63118800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr17:63117400-63117600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr17:63117400-63117600	Flanking Active TSS	Dnd41	blood
30	chr17:63117400-63117800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:63117400-63118400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:63117400-63118400	Enhancers	NHEK	skin
33	chr17:63117400-63118600	Enhancers	GM12878-XiMat	blood
34	chr17:63117400-63118800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr17:63117400-63119000	Enhancers	Primary hematopoietic stem cells	blood

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