Variant report

Variant	rs62512583
Chromosome Location	chr8:67416941-67416942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

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	0.98[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]
rs62512584	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]
rs7010810	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67406800-67419400	Weak transcription	Liver	Liver
2	chr8:67407000-67417400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67407200-67419400	Weak transcription	Aorta	Aorta
4	chr8:67411200-67418800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:67411200-67419200	Weak transcription	HSMM	muscle
6	chr8:67411200-67419200	Weak transcription	NH-A	brain
7	chr8:67411200-67419400	Weak transcription	A549	lung
8	chr8:67413000-67419200	Weak transcription	Brain Germinal Matrix	brain
9	chr8:67413800-67418000	Enhancers	Brain Cingulate Gyrus	brain
10	chr8:67414400-67417400	Enhancers	Brain Substantia Nigra	brain
11	chr8:67414600-67419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:67414800-67424400	Weak transcription	Hela-S3	cervix
13	chr8:67415200-67419400	Weak transcription	Placenta	Placenta
14	chr8:67415400-67417600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:67415400-67420800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:67416000-67418000	Enhancers	Brain Angular Gyrus	brain
17	chr8:67416000-67418200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:67416000-67419200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:67416000-67424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:67416200-67417600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:67416400-67417600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:67416400-67417600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:67416400-67417800	Weak transcription	NHDF-Ad	bronchial
24	chr8:67416400-67418000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:67416400-67418600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:67416400-67419000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:67416400-67419400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:67416400-67419400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:67416400-67419400	Weak transcription	Adipose Nuclei	Adipose
30	chr8:67416400-67419400	Weak transcription	HSMMtube	muscle
31	chr8:67416400-67419600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:67416400-67420400	Weak transcription	Spleen	Spleen
33	chr8:67416600-67417000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr8:67416600-67417400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:67416600-67417400	Enhancers	Brain Hippocampus Middle	brain
36	chr8:67416600-67417800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr8:67416600-67417800	Weak transcription	GM12878-XiMat	blood
38	chr8:67416600-67418600	Weak transcription	Primary B cells from cord blood	blood
39	chr8:67416600-67419400	Weak transcription	HUVEC	blood vessel
40	chr8:67416800-67417000	Flanking Active TSS	Brain Anterior Caudate	brain

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