Variant report

Variant	rs116343952
Chromosome Location	chr2:179711588-179711589
allele	C/T
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	GATA3	chr2:179711050-179711704	SK-N-SH	brain:	n/a	chr2:179711332-179711341
2	NFIC	chr2:179711030-179711680	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr2:179710988-179711738	SK-N-SH	brain:	n/a	chr2:179711332-179711341

Variant related genes	Relation type
CCDC141	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

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	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521818	chr2:179710973-179713601	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs116343952	PDE11A	cis	temporal cortex	BrainEAC

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179693400-179712600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:179693400-179726000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:179694200-179713400	Weak transcription	Spleen	Spleen
4	chr2:179695600-179712600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:179695600-179712600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:179695600-179713000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
8	chr2:179696400-179728800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:179701800-179712000	Weak transcription	Primary B cells from cord blood	blood
10	chr2:179701800-179712200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:179702200-179713200	Weak transcription	Fetal Thymus	thymus
12	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
13	chr2:179702400-179729200	Weak transcription	Lung	lung
14	chr2:179702400-179730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:179702800-179728600	Weak transcription	Pancreas	Pancrea
16	chr2:179703400-179712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:179704400-179720800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:179707200-179721000	Strong transcription	Primary T cells from cord blood	blood
19	chr2:179708000-179711600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:179708000-179727800	Weak transcription	Psoas Muscle	Psoas
21	chr2:179708200-179712000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:179708600-179711800	Enhancers	Stomach Smooth Muscle	stomach
23	chr2:179709000-179711600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:179709000-179712000	Enhancers	HSMMtube	muscle
25	chr2:179709200-179711600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:179709200-179711600	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:179709200-179711600	Enhancers	HSMM	muscle
28	chr2:179709200-179711600	Enhancers	NHDF-Ad	bronchial
29	chr2:179709200-179711600	Enhancers	Osteobl	bone
30	chr2:179709400-179714800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:179709800-179711600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:179710000-179711600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:179710000-179714200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:179710200-179715000	Weak transcription	Ovary	ovary
35	chr2:179710400-179711600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:179710400-179712000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:179710600-179711800	Weak transcription	Aorta	Aorta
38	chr2:179710800-179711600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:179710800-179712600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:179710800-179722400	Weak transcription	Fetal Lung	lung
41	chr2:179710800-179724000	Weak transcription	Fetal Intestine Small	intestine
42	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:179711000-179711600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:179711000-179712200	Enhancers	Left Ventricle	heart
45	chr2:179711200-179711600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:179711200-179711600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:179711200-179712000	Enhancers	Fetal Heart	heart
48	chr2:179711200-179714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:179711200-179715000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:179711400-179711600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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