Variant report

Variant	esv3332651
Chromosome Location	chr3:23281828-23282422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142333347	chr3:23281829-23281830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530379877	chr3:23281846-23281847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186924562	chr3:23281848-23281849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532276146	chr3:23281873-23281874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112573445	chr3:23281884-23281885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111419589	chr3:23281943-23281944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564399759	chr3:23281982-23281983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111700228	chr3:23281994-23281995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528322002	chr3:23282031-23282032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546752493	chr3:23282049-23282050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9809176	chr3:23282061-23282062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530234831	chr3:23282065-23282066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548672921	chr3:23282068-23282069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570067822	chr3:23282161-23282162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190632236	chr3:23282185-23282186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552633090	chr3:23282192-23282193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145977095	chr3:23282217-23282218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17012897	chr3:23282222-23282223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553133453	chr3:23282228-23282229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574666390	chr3:23282274-23282275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535181782	chr3:23282290-23282291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200297439	chr3:23282405-23282406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23265400-23282000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:23272600-23283000	Weak transcription	HMEC	breast
3	chr3:23274600-23283000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:23274800-23298200	Weak transcription	Aorta	Aorta
5	chr3:23278600-23289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:23278800-23283000	Weak transcription	Left Ventricle	heart
7	chr3:23279400-23282800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr3:23279800-23282800	Enhancers	Brain Angular Gyrus	brain
9	chr3:23280000-23282800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:23280000-23282800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:23280200-23282200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:23280200-23282200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:23280200-23282600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:23280200-23282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:23280200-23282800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:23280200-23291400	Weak transcription	Psoas Muscle	Psoas
17	chr3:23280400-23290600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:23280800-23282200	Enhancers	Liver	Liver
19	chr3:23280800-23282600	Enhancers	Brain Hippocampus Middle	brain
20	chr3:23280800-23283600	Enhancers	Brain Anterior Caudate	brain
21	chr3:23280800-23285000	Enhancers	Brain Cingulate Gyrus	brain
22	chr3:23281000-23282200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:23281000-23282600	Enhancers	Brain Substantia Nigra	brain
24	chr3:23281200-23282000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:23281200-23282200	Enhancers	Adipose Nuclei	Adipose
26	chr3:23281200-23282200	Enhancers	A549	lung
27	chr3:23281200-23282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:23281400-23282000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:23281400-23282000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:23281400-23282400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:23281400-23282800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr3:23281400-23298200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:23281600-23282600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:23282000-23282200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:23282000-23282200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:23282000-23283200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:23282000-23290200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:23282200-23282600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:23282200-23284000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:23282200-23285800	Weak transcription	Liver	Liver
41	chr3:23282200-23289000	Weak transcription	Adipose Nuclei	Adipose
42	chr3:23282200-23294600	Weak transcription	A549	lung
43	chr3:23282400-23286000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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