Variant report

Variant	esv20176
Chromosome Location	chr3:50945260-50955050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 304 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561460269	chr3:50945271-50945272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577039177	chr3:50945295-50945296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142003846	chr3:50945305-50945306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150704847	chr3:50945320-50945321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73081114	chr3:50945367-50945368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571833328	chr3:50945386-50945387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547263210	chr3:50945401-50945402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375010749	chr3:50945425-50945426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554218955	chr3:50945483-50945484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574195948	chr3:50945484-50945485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4452323	chr3:50945503-50945504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563046964	chr3:50945507-50945508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578161273	chr3:50945518-50945519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545439640	chr3:50945520-50945521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560481809	chr3:50945533-50945534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527670284	chr3:50945598-50945599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372526072	chr3:50945608-50945609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560096515	chr3:50945620-50945621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34822979	chr3:50945621-50945622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201796603	chr3:50945622-50945623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200252940	chr3:50945624-50945625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550837883	chr3:50945628-50945629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71084124	chr3:50945641-50945642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574677374	chr3:50945644-50945645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182003291	chr3:50945649-50945650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13071920	chr3:50945703-50945704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185532639	chr3:50945745-50945746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138700054	chr3:50945794-50945795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549909997	chr3:50945827-50945828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13092850	chr3:50945928-50945929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs59944295	chr3:50945960-50945961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547007104	chr3:50945981-50945982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537865424	chr3:50946011-50946012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565362269	chr3:50946043-50946044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149354790	chr3:50946056-50946057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147476277	chr3:50946091-50946092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548447042	chr3:50946154-50946155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139981241	chr3:50946155-50946156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569690390	chr3:50946156-50946157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190435302	chr3:50946166-50946167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556688764	chr3:50946332-50946333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578198784	chr3:50946345-50946346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565175113	chr3:50946347-50946348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13088041	chr3:50946367-50946368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181764492	chr3:50946390-50946391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60856567	chr3:50946394-50946395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371297375	chr3:50946395-50946396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543035586	chr3:50946414-50946415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186844276	chr3:50946427-50946428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527541858	chr3:50946478-50946479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	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
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50942200-50946600	Weak transcription	Fetal Heart	heart
2	chr3:50946600-50947000	Active TSS	Fetal Heart	heart
3	chr3:50947600-50948200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:50947800-50948000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:50947800-50948000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:50948000-50949800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:50948000-50949800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:50948200-50949800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:50949800-50950000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:50949800-50950200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:50949800-50950400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:50949800-50950400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:50949800-50950600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:50949800-50951000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr3:50949800-50951200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:50949800-50951200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:50949800-50951200	Enhancers	Gastric	stomach
18	chr3:50950000-50951200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:50950000-50951200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:50950000-50951400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:50950200-50951400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:50950400-50951200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:50950400-50951200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:50950400-50959200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:50950600-50951200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:50950800-50951200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:50951000-50951400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr3:50951000-50951400	Enhancers	Brain Hippocampus Middle	brain
29	chr3:50951200-50953000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:50951200-50954800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:50951200-50959400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:50951400-50964000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:50953000-50953800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:50953800-50959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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