Variant report

Variant	rs8080929
Chromosome Location	chr17:63188025-63188026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:62969753..62972394-chr17:63187486..63190277,2	MCF-7	breast:
2	chr17:63170124..63172444-chr17:63186686..63188784,3	MCF-7	breast:
3	chr17:63173089..63175684-chr17:63187453..63189983,2	MCF-7	breast:
4	chr17:63182143..63186643-chr17:63187200..63191451,4	K562	blood:
5	chr17:63187427..63189575-chr17:63192688..63195181,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108370	Chromatin interaction
ENSG00000214174	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10514867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11650746	0.83[ASN][1000 genomes]
rs11651062	0.83[ASN][1000 genomes]
rs11651081	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11654243	0.89[CEU][hapmap];0.82[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11654391	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11657250	0.83[ASN][1000 genomes]
rs11658655	0.83[ASN][1000 genomes]
rs11658673	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11658736	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11658773	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1514500	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16960903	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16960905	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16960920	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16960957	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16961015	1.00[CHB][hapmap]
rs16961273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2869578	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2869579	0.83[ASN][1000 genomes]
rs2869580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2869582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2869584	0.83[ASN][1000 genomes]
rs4293415	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4588019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4791220	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4791223	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4791227	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55948933	0.83[ASN][1000 genomes]
rs56102951	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7207726	0.94[CEU][hapmap]
rs7211341	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7215502	0.83[ASN][1000 genomes]
rs7217524	1.00[JPT][hapmap]
rs7217548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7218518	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7220710	0.83[ASN][1000 genomes]
rs7220949	0.83[ASN][1000 genomes]
rs7221103	0.83[ASN][1000 genomes]
rs73347632	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8065438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8065444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8065725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8066063	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8066072	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8068016	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8071603	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8072543	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8072633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8078293	0.82[CEU][hapmap]
rs908089	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs925674	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9889653	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9896245	0.89[CEU][hapmap]
rs9897592	0.86[CEU][hapmap]
rs9898825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9900568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9900709	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9901108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9904207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9907146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9907374	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9908359	1.00[CHB][hapmap]
rs9914418	0.83[ASN][1000 genomes]
rs9914790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9916092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9916525	0.90[CEU][hapmap]
rs9916789	0.83[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63169800-63190800	Weak transcription	Gastric	stomach
2	chr17:63176400-63223800	Weak transcription	Lung	lung
3	chr17:63180000-63194600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:63180600-63194800	Weak transcription	Brain Hippocampus Middle	brain
5	chr17:63181200-63192800	Weak transcription	Dnd41	blood
6	chr17:63181200-63197400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr17:63181600-63189400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:63181800-63209600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr17:63182800-63192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:63184800-63197600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:63186400-63189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:63186600-63188800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:63186600-63188800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:63186600-63189000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:63186600-63189000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:63186600-63189000	Enhancers	NHDF-Ad	bronchial
17	chr17:63186600-63190200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:63186800-63189000	Enhancers	NHEK	skin
19	chr17:63186800-63189600	Enhancers	HSMMtube	muscle
20	chr17:63186800-63190200	Enhancers	A549	lung
21	chr17:63187000-63188800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:63187000-63190200	Enhancers	HMEC	breast
23	chr17:63187000-63194800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr17:63187200-63189000	Enhancers	HUVEC	blood vessel
25	chr17:63187200-63190400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:63187200-63190400	Enhancers	HSMM	muscle
27	chr17:63187200-63192000	Weak transcription	Brain Anterior Caudate	brain
28	chr17:63187400-63188200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:63187400-63191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:63187600-63188800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr17:63187600-63189000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:63187600-63189200	Enhancers	NH-A	brain
33	chr17:63187800-63188200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr17:63187800-63188200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr17:63187800-63188400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr17:63187800-63188600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr17:63187800-63188600	Enhancers	GM12878-XiMat	blood
38	chr17:63187800-63188600	Enhancers	Hela-S3	cervix
39	chr17:63187800-63188800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr17:63187800-63189000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr17:63187800-63189200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr17:63187800-63190000	Enhancers	Osteobl	bone
43	chr17:63187800-63190600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:63188000-63188400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr17:63188000-63188600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:63188000-63188600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr17:63188000-63188600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:63188000-63188600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr17:63188000-63189600	Enhancers	NHLF	lung
50	chr17:63188000-63190400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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