Variant report

Variant	esv3327808
Chromosome Location	chr3:112929062-112929100
allele	n/a
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	REST	chr3:112929039-112929317	SK-N-SH	brain:	n/a	chr3:112929193-112929202

Variant related genes	Relation type
BOC	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200128512	chr3:112929072-112929073	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs7641396	chr3:112929075-112929076	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555674291	chr3:112929076-112929077	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200989756	chr3:112929079-112929080	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs139082119	chr3:112929087-112929088	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs138761748	chr3:112929091-112929092	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112919400-112929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:112922600-112929200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:112923600-112929200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:112926400-112929200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:112927200-112929200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:112927200-112929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:112927200-112929200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:112928200-112929200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:112928200-112929200	Enhancers	Colon Smooth Muscle	Colon
10	chr3:112928200-112929200	Enhancers	Fetal Muscle Leg	muscle
11	chr3:112928400-112929200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:112928400-112929200	Enhancers	Fetal Stomach	stomach
13	chr3:112928400-112929200	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:112928400-112929400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:112928800-112929200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:112928800-112929200	Enhancers	Fetal Muscle Trunk	muscle
17	chr3:112928800-112929400	Enhancers	Fetal Lung	lung
18	chr3:112929000-112929200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:112929000-112929200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:112929000-112929200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:112929000-112929200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:112929000-112929200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:112929000-112929200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:112929000-112929200	Enhancers	Fetal Brain Female	brain
25	chr3:112929000-112929400	Enhancers	Fetal Brain Male	brain
26	chr3:112929000-112929600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:112929000-112929600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr3:112929000-112929800	Enhancers	Pancreas	Pancrea
29	chr3:112929000-112930000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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