Variant report

Variant	rs62512589
Chromosome Location	chr8:67426236-67426237
allele	A/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	chr8:67423189..67428522-chr8:67623234..67628071,7	MCF-7	breast:
2	chr8:67385971..67387776-chr8:67424804..67426337,2	MCF-7	breast:
3	chr8:67417099..67419629-chr8:67424131..67426273,2	MCF-7	breast:
4	chr8:67424749..67427225-chr8:67428836..67431636,2	K562	blood:
5	chr8:67398115..67399973-chr8:67424030..67426495,2	MCF-7	breast:
6	chr8:67424694..67427156-chr8:67976156..67978565,3	MCF-7	breast:
7	chr8:67422088..67426308-chr8:67518696..67523583,8	MCF-7	breast:
8	chr8:67421561..67429070-chr8:67518939..67527775,32	MCF-7	breast:
9	chr8:67370581..67378448-chr8:67424626..67427789,7	MCF-7	breast:
10	chr8:67345421..67347646-chr8:67424128..67426947,2	MCF-7	breast:
11	chr8:67422601..67431884-chr8:67622296..67628668,31	MCF-7	breast:
12	chr8:67423253..67428167-chr8:67524174..67527584,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction
ENSG00000169085	Chromatin interaction
ENSG00000121022	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000104218	Chromatin interaction
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12546226	0.83[EUR][1000 genomes]
rs12547088	0.83[EUR][1000 genomes]
rs12674697	0.83[EUR][1000 genomes]
rs12674856	0.83[EUR][1000 genomes]
rs12676571	0.83[EUR][1000 genomes]
rs12680750	0.83[EUR][1000 genomes]
rs16932794	0.83[EUR][1000 genomes]
rs16932797	0.83[EUR][1000 genomes]
rs57145208	0.83[EUR][1000 genomes]
rs58426145	1.00[EUR][1000 genomes]
rs58730001	0.83[EUR][1000 genomes]
rs60505214	1.00[EUR][1000 genomes]
rs62511162	1.00[EUR][1000 genomes]
rs62511184	1.00[AMR][1000 genomes]
rs62511185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511186	0.83[EUR][1000 genomes]
rs62511187	0.83[EUR][1000 genomes]
rs62511213	0.83[EUR][1000 genomes]
rs62511215	1.00[AMR][1000 genomes]
rs62511907	0.83[EUR][1000 genomes]
rs62511940	1.00[EUR][1000 genomes]
rs62512576	1.00[AFR][1000 genomes]
rs62512577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62512578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62512580	1.00[EUR][1000 genomes]
rs62512583	1.00[EUR][1000 genomes]
rs62512584	1.00[EUR][1000 genomes]
rs62512585	1.00[EUR][1000 genomes]
rs62512587	1.00[AFR][1000 genomes]
rs7002969	0.83[EUR][1000 genomes]
rs7016951	0.83[EUR][1000 genomes]
rs7819028	0.83[EUR][1000 genomes]
rs7834454	0.83[EUR][1000 genomes]
rs7839082	0.83[EUR][1000 genomes]
rs7840104	0.83[EUR][1000 genomes]
rs7840490	0.83[EUR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv516599	chr8:67423997-67432106	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67419800-67430000	Weak transcription	Psoas Muscle	Psoas
2	chr8:67420000-67427600	Weak transcription	Liver	Liver
3	chr8:67423200-67427200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:67423200-67427800	Enhancers	Fetal Heart	heart
5	chr8:67423600-67433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:67423800-67426600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:67423800-67426600	Enhancers	HSMM	muscle
8	chr8:67423800-67428400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:67424000-67426600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:67424400-67426400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:67424400-67426600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:67424400-67426600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:67424400-67426600	Bivalent Enhancer	Placenta	Placenta
14	chr8:67424400-67426600	Enhancers	NH-A	brain
15	chr8:67424600-67426400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:67424600-67427400	Enhancers	Fetal Lung	lung
17	chr8:67425000-67426400	Genic enhancers	Brain Angular Gyrus	brain
18	chr8:67425000-67429400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:67425000-67430000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:67425200-67426600	Enhancers	HSMMtube	muscle
21	chr8:67425200-67429000	Weak transcription	Osteobl	bone
22	chr8:67425200-67433800	Weak transcription	Spleen	Spleen
23	chr8:67425400-67426400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:67425400-67426400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:67425400-67426400	Genic enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:67425400-67429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:67425400-67429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:67425400-67429000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:67425400-67429000	Weak transcription	HMEC	breast
30	chr8:67425400-67429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:67425400-67429600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:67425400-67429600	Weak transcription	HUVEC	blood vessel
33	chr8:67425400-67429600	Weak transcription	NHLF	lung
34	chr8:67425400-67429800	Weak transcription	Aorta	Aorta
35	chr8:67425400-67429800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:67425400-67430000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:67425400-67430000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:67425400-67430400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:67425400-67430800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:67425400-67431000	Weak transcription	Right Atrium	heart
41	chr8:67425400-67431400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:67425400-67433800	Weak transcription	Ovary	ovary
43	chr8:67425600-67427800	Weak transcription	Left Ventricle	heart
44	chr8:67425600-67428400	Weak transcription	A549	lung
45	chr8:67425600-67429000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:67425600-67430000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:67425600-67430400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:67425600-67433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:67425800-67426400	Genic enhancers	Brain Substantia Nigra	brain
50	chr8:67425800-67426600	Genic enhancers	Brain Hippocampus Middle	brain

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