Variant report

Variant	rs10809911
Chromosome Location	chr9:13147764-13147765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13284498	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs1999394	1.00[CHD][hapmap]
rs7029241	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv892582	chr9:13085379-13147764	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv528464	chr9:13137603-13147764	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv518837	chr9:13144078-13147764	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10809911	MPDZ	cis	cerebellum	SCAN
rs10809911	ATP5SL	trans	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13103200-13163400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:13103200-13175600	Weak transcription	HepG2	liver
3	chr9:13106000-13153400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:13121600-13225200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:13122600-13186400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr9:13135400-13223600	Weak transcription	Lung	lung
7	chr9:13136000-13192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:13136200-13149400	Weak transcription	Fetal Heart	heart
9	chr9:13137400-13152800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:13138200-13161000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:13138800-13159800	Weak transcription	Aorta	Aorta
12	chr9:13138800-13191800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:13139000-13188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:13139800-13149600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:13139800-13174800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:13140200-13149000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr9:13140200-13149200	Weak transcription	HSMMtube	muscle
18	chr9:13140200-13149600	Weak transcription	Psoas Muscle	Psoas
19	chr9:13140200-13152000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:13140200-13152200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr9:13140200-13153600	Weak transcription	Fetal Intestine Small	intestine
22	chr9:13140200-13157000	Weak transcription	Placenta	Placenta
23	chr9:13140200-13161200	Weak transcription	Fetal Stomach	stomach
24	chr9:13140200-13167800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:13140200-13174800	Weak transcription	Right Ventricle	heart
26	chr9:13141000-13181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:13141000-13197800	Weak transcription	NHDF-Ad	bronchial
28	chr9:13141200-13188200	Weak transcription	NHLF	lung
29	chr9:13142200-13155800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr9:13143600-13149400	Weak transcription	A549	lung
31	chr9:13143600-13157200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:13143600-13202200	Weak transcription	Pancreas	Pancrea
33	chr9:13143800-13152800	Weak transcription	Fetal Kidney	kidney
34	chr9:13143800-13164800	Weak transcription	Fetal Brain Female	brain
35	chr9:13143800-13167800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr9:13144800-13149000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:13144800-13160000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:13145000-13149200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:13145000-13149400	Weak transcription	Brain Angular Gyrus	brain
40	chr9:13145000-13149800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:13145000-13151200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:13145000-13153400	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:13145000-13161600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr9:13145200-13152600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr9:13145400-13148200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:13145400-13163600	Weak transcription	Brain Hippocampus Middle	brain
47	chr9:13145400-13163600	Weak transcription	Brain Substantia Nigra	brain
48	chr9:13145400-13203200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr9:13145400-13228600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:13145600-13149200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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