Variant report

Variant	esv2485061
Chromosome Location	chr3:134010953-134010953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 51 )

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	rs149977970	chr3:134010953-134010954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134008200-134011000	Enhancers	Fetal Lung	lung
2	chr3:134009600-134011000	Enhancers	Fetal Stomach	stomach
3	chr3:134009800-134011000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:134009800-134011000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:134009800-134011000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:134009800-134011000	Enhancers	Fetal Heart	heart
7	chr3:134009800-134011000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:134009800-134011200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:134010000-134011000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:134010000-134011000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:134010000-134011000	Enhancers	Adipose Nuclei	Adipose
12	chr3:134010000-134011000	Enhancers	Fetal Muscle Leg	muscle
13	chr3:134010000-134011000	Enhancers	Right Ventricle	heart
14	chr3:134010200-134011000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:134010200-134011000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:134010200-134011000	Enhancers	Small Intestine	intestine
17	chr3:134010200-134011000	Enhancers	HSMMtube	muscle
18	chr3:134010200-134011200	Enhancers	NHLF	lung
19	chr3:134010400-134011000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr3:134010400-134011000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:134010400-134011000	Enhancers	Colonic Mucosa	Colon
22	chr3:134010400-134011000	Enhancers	NHEK	skin
23	chr3:134010400-134011000	Enhancers	Osteobl	bone
24	chr3:134010600-134011000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:134010600-134011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:134010600-134012000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:134010600-134012000	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:134010600-134012000	Weak transcription	Ovary	ovary
29	chr3:134010600-134013000	Weak transcription	Dnd41	blood
30	chr3:134010600-134018200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:134010800-134011000	Enhancers	Primary T cells from cord blood	blood
32	chr3:134010800-134011000	Enhancers	Stomach Smooth Muscle	stomach
33	chr3:134010800-134012200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:134010800-134012200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr3:134010800-134012800	Weak transcription	HMEC	breast

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