Variant report

Variant	esv3405291
Chromosome Location	chr3:79063757-79063910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:79059187..79061732-chr3:79063739..79067331,3	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 77 )

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	rs563566324	chr3:79063768-79063769	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs1374883	chr3:79063832-79063833	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546516510	chr3:79063866-79063867	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559804104	chr3:79063873-79063874	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79044800-79064600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:79054400-79066600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:79054600-79064600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:79058600-79064600	Enhancers	Brain Hippocampus Middle	brain
5	chr3:79059000-79064800	Enhancers	Brain Substantia Nigra	brain
6	chr3:79060000-79064600	Enhancers	Fetal Lung	lung
7	chr3:79060600-79064600	Weak transcription	Fetal Stomach	stomach
8	chr3:79060800-79064400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:79061000-79064600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:79061200-79064200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:79061200-79067000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:79061400-79064200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:79061400-79065800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:79061600-79064000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:79062000-79064800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:79062000-79065200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:79062200-79064200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:79062200-79064200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:79062200-79064600	Enhancers	NHEK	skin
20	chr3:79062200-79064800	Enhancers	Fetal Brain Male	brain
21	chr3:79062200-79065200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:79062200-79065200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:79062200-79065200	Weak transcription	Adipose Nuclei	Adipose
24	chr3:79062200-79065200	Weak transcription	Fetal Heart	heart
25	chr3:79062400-79064400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:79062400-79064400	Weak transcription	Right Atrium	heart
27	chr3:79062400-79064600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:79062400-79065200	Weak transcription	Ovary	ovary
29	chr3:79062400-79065800	Weak transcription	Psoas Muscle	Psoas
30	chr3:79062400-79066000	Weak transcription	Primary T cells from cord blood	blood
31	chr3:79062400-79066000	Weak transcription	HSMMtube	muscle
32	chr3:79062600-79063800	Weak transcription	Osteobl	bone
33	chr3:79062600-79064000	Enhancers	Brain Anterior Caudate	brain
34	chr3:79062600-79064000	Enhancers	Brain Cingulate Gyrus	brain
35	chr3:79062600-79064200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:79062600-79064200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:79062600-79064400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:79062600-79064600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:79062600-79064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:79062600-79064600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:79062600-79064600	Weak transcription	Fetal Kidney	kidney
42	chr3:79062600-79064800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:79062600-79064800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:79062600-79064800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:79062600-79064800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:79062600-79065000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:79062600-79065200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:79062600-79065600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr3:79062600-79065800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:79062600-79065800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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