Variant report

Variant	rs13259742
Chromosome Location	chr8:20120139-20120140
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11204106	0.80[ASN][1000 genomes]
rs11784323	0.80[ASN][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13259742	PHYHIP	cis	cerebellum	SCAN
rs13259742	POLR3D	cis	cerebellum	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20108400-20125200	Weak transcription	Fetal Intestine Small	intestine
2	chr8:20111400-20122000	Weak transcription	Gastric	stomach
3	chr8:20112600-20120400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr8:20113200-20122200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:20117200-20126000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:20117600-20125200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:20117800-20121400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:20117800-20122000	Enhancers	Fetal Stomach	stomach
9	chr8:20118000-20122400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:20118400-20120400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:20118400-20121200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:20118400-20122200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:20118400-20124200	Enhancers	Fetal Muscle Leg	muscle
14	chr8:20118400-20126200	Enhancers	Fetal Lung	lung
15	chr8:20118400-20126200	Enhancers	Fetal Thymus	thymus
16	chr8:20118600-20120600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:20118600-20120600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:20118600-20121000	Enhancers	NHLF	lung
19	chr8:20118600-20124000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:20118800-20120200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:20118800-20120200	Enhancers	Fetal Brain Male	brain
22	chr8:20118800-20120600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:20118800-20120600	Enhancers	Fetal Brain Female	brain
24	chr8:20118800-20122200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:20118800-20122400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:20118800-20123400	Enhancers	NH-A	brain
27	chr8:20119000-20120400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr8:20119000-20120800	Enhancers	NHDF-Ad	bronchial
29	chr8:20119000-20121000	Enhancers	HSMMtube	muscle
30	chr8:20119000-20121200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:20119000-20121600	Enhancers	Fetal Kidney	kidney
32	chr8:20119000-20122200	Enhancers	HSMM	muscle
33	chr8:20119000-20126200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:20119200-20120200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:20119200-20120400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:20119200-20121000	Enhancers	Ovary	ovary
37	chr8:20119200-20121200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:20119400-20121200	Genic enhancers	Dnd41	blood
39	chr8:20119600-20120200	Enhancers	Brain Angular Gyrus	brain
40	chr8:20119600-20121600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:20119600-20122000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:20119600-20122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:20119600-20127000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:20119800-20120200	Enhancers	Osteobl	bone
45	chr8:20119800-20120400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:20119800-20120600	Enhancers	Brain Substantia Nigra	brain
47	chr8:20119800-20120600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:20119800-20120600	Weak transcription	Left Ventricle	heart
49	chr8:20119800-20121000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:20119800-20121000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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