Variant report

Variant	esv13007
Chromosome Location	chr3:53046737-53047530
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	chr3:53047316..53051698-chr3:53056732..53062167,5	MCF-7	breast:
2	chr3:53045411..53048406-chr3:53050370..53052257,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 92 )

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	rs376951608	chr3:53046838-53046839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62255892	chr3:53046904-53046905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571867807	chr3:53046931-53046932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577145309	chr3:53046987-53046988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151332802	chr3:53047006-53047007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529351167	chr3:53047041-53047042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561093468	chr3:53047092-53047093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529753118	chr3:53047103-53047104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140038778	chr3:53047120-53047121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550756945	chr3:53047124-53047125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547896490	chr3:53047142-53047143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369231375	chr3:53047145-53047146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561959289	chr3:53047212-53047213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9819608	chr3:53047213-53047214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs117496343	chr3:53047386-53047387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79139223	chr3:53047417-53047418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185476450	chr3:53047454-53047455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2564948	chr3:53047469-53047470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546780231	chr3:53047501-53047502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145569678	chr3:53047502-53047503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529546895	chr3:53047524-53047525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189323044	chr3:53047529-53047530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53019000-53057200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr3:53019600-53056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr3:53020600-53057000	Weak transcription	Dnd41	blood
4	chr3:53022600-53050400	Weak transcription	Primary B cells from cord blood	blood
5	chr3:53025600-53061600	Weak transcription	Lung	lung
6	chr3:53027600-53061600	Weak transcription	Liver	Liver
7	chr3:53027800-53051000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:53030200-53059400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:53030400-53052400	Weak transcription	Primary T cells from cord blood	blood
10	chr3:53030800-53050400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:53032800-53051600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
13	chr3:53033200-53057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:53033600-53056200	Weak transcription	Fetal Stomach	stomach
15	chr3:53033800-53052800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:53033800-53053800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:53033800-53060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:53033800-53065000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:53037000-53065000	Weak transcription	Fetal Intestine Small	intestine
20	chr3:53040800-53065000	Weak transcription	Fetal Intestine Large	intestine
21	chr3:53041400-53053600	Weak transcription	Fetal Thymus	thymus
22	chr3:53043800-53064800	Weak transcription	Stomach Mucosa	stomach
23	chr3:53044400-53050400	Weak transcription	A549	lung
24	chr3:53044400-53052400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:53044400-53056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr3:53044600-53048800	Weak transcription	Pancreas	Pancrea
27	chr3:53044600-53050200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:53044600-53051200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr3:53044600-53055600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:53044600-53065000	Weak transcription	Gastric	stomach
31	chr3:53045000-53050400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:53045200-53049800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:53045200-53050200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:53045200-53050200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:53045200-53061400	Weak transcription	Fetal Heart	heart
36	chr3:53045400-53049600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:53045400-53050200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:53045400-53052600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:53045400-53057200	Weak transcription	Psoas Muscle	Psoas
40	chr3:53045400-53061600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:53045600-53050600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:53045600-53052400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:53045600-53057000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:53045600-53057600	Weak transcription	Left Ventricle	heart
45	chr3:53045800-53050400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:53045800-53061400	Weak transcription	HepG2	liver
47	chr3:53046000-53051800	Weak transcription	GM12878-XiMat	blood
48	chr3:53046000-53052400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:53046000-53057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:53046200-53052600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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