Variant report

Variant	rs62512584
Chromosome Location	chr8:67417871-67417872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:67417822-67417919	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67417099..67419629-chr8:67424131..67426273,2	MCF-7	breast:
2	chr8:67401130..67402872-chr8:67415894..67418363,2	K562	blood:
3	chr8:67416381..67419252-chr8:67519039..67521783,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1324P	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12541169	1.00[EUR][1000 genomes]
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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58730001	0.83[EUR][1000 genomes]
rs60505214	1.00[EUR][1000 genomes]
rs62511162	1.00[EUR][1000 genomes]
rs62511185	1.00[EUR][1000 genomes]
rs62511186	0.83[EUR][1000 genomes]
rs62511187	0.83[EUR][1000 genomes]
rs62511213	0.83[EUR][1000 genomes]
rs62511883	0.83[EUR][1000 genomes]
rs62511907	0.83[EUR][1000 genomes]
rs62511940	1.00[EUR][1000 genomes]
rs62512577	1.00[EUR][1000 genomes]
rs62512578	1.00[EUR][1000 genomes]
rs62512580	1.00[EUR][1000 genomes]
rs62512583	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62512585	1.00[EUR][1000 genomes]
rs62512589	1.00[EUR][1000 genomes]
rs6986855	1.00[EUR][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:1 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67406800-67419400	Weak transcription	Liver	Liver
2	chr8:67407200-67419400	Weak transcription	Aorta	Aorta
3	chr8:67411200-67418800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:67411200-67419200	Weak transcription	HSMM	muscle
5	chr8:67411200-67419200	Weak transcription	NH-A	brain
6	chr8:67411200-67419400	Weak transcription	A549	lung
7	chr8:67413000-67419200	Weak transcription	Brain Germinal Matrix	brain
8	chr8:67413800-67418000	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:67414600-67419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:67414800-67424400	Weak transcription	Hela-S3	cervix
11	chr8:67415200-67419400	Weak transcription	Placenta	Placenta
12	chr8:67415400-67420800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:67416000-67418000	Enhancers	Brain Angular Gyrus	brain
14	chr8:67416000-67418200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:67416000-67419200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:67416000-67424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:67416400-67418000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:67416400-67418600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:67416400-67419000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:67416400-67419400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:67416400-67419400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:67416400-67419400	Weak transcription	Adipose Nuclei	Adipose
23	chr8:67416400-67419400	Weak transcription	HSMMtube	muscle
24	chr8:67416400-67419600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:67416400-67420400	Weak transcription	Spleen	Spleen
26	chr8:67416600-67418600	Weak transcription	Primary B cells from cord blood	blood
27	chr8:67416600-67419400	Weak transcription	HUVEC	blood vessel
28	chr8:67417000-67418200	Genic enhancers	Brain Inferior Temporal Lobe	brain
29	chr8:67417000-67419400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr8:67417400-67418000	Genic enhancers	Brain Hippocampus Middle	brain
31	chr8:67417400-67418400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:67417600-67418000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:67417600-67418200	Genic enhancers	Brain Substantia Nigra	brain
34	chr8:67417600-67418400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:67417600-67419200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:67417600-67419600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:67417800-67418000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:67417800-67418200	Genic enhancers	Brain Anterior Caudate	brain
39	chr8:67417800-67418600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:67417800-67418800	Enhancers	GM12878-XiMat	blood
41	chr8:67417800-67418800	Enhancers	NHDF-Ad	bronchial
42	chr8:67417800-67419200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:67417800-67421000	Enhancers	Primary B cells from peripheral blood	blood

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