Variant report

Variant	rs11778287
Chromosome Location	chr8:67416087-67416088
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:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10112574	0.90[JPT][hapmap]
rs1030420	0.83[JPT][hapmap]
rs11780639	0.83[JPT][hapmap]
rs12335128	0.83[JPT][hapmap]
rs1978566	0.91[JPT][hapmap]
rs2303519	0.83[JPT][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11778287	PYGO1	trans	cerebellum	SCAN
rs11778287	PDE7A	cis	parietal	SCAN

Chromatin state (count:44 , 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	chr8:67407400-67416200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:67411200-67418800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:67411200-67419200	Weak transcription	HSMM	muscle
7	chr8:67411200-67419200	Weak transcription	NH-A	brain
8	chr8:67411200-67419400	Weak transcription	A549	lung
9	chr8:67413000-67419200	Weak transcription	Brain Germinal Matrix	brain
10	chr8:67413600-67416600	Enhancers	GM12878-XiMat	blood
11	chr8:67413800-67418000	Enhancers	Brain Cingulate Gyrus	brain
12	chr8:67414400-67417400	Enhancers	Brain Substantia Nigra	brain
13	chr8:67414600-67419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:67414800-67424400	Weak transcription	Hela-S3	cervix
15	chr8:67415000-67416800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:67415200-67416400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:67415200-67416400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:67415200-67416400	Enhancers	Adipose Nuclei	Adipose
19	chr8:67415200-67416400	Enhancers	Spleen	Spleen
20	chr8:67415200-67416600	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:67415200-67419400	Weak transcription	Placenta	Placenta
22	chr8:67415400-67416200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:67415400-67416600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr8:67415400-67417600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:67415400-67420800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:67415600-67416400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:67415800-67416400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:67415800-67416400	Enhancers	HSMMtube	muscle
29	chr8:67415800-67416600	Enhancers	Primary B cells from cord blood	blood
30	chr8:67415800-67416600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:67415800-67416600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:67416000-67416400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:67416000-67416400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:67416000-67416400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:67416000-67416400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:67416000-67416400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr8:67416000-67416600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:67416000-67416600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr8:67416000-67416600	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr8:67416000-67416600	Enhancers	HUVEC	blood vessel
41	chr8:67416000-67418000	Enhancers	Brain Angular Gyrus	brain
42	chr8:67416000-67418200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:67416000-67419200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:67416000-67424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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