Variant report

Variant	esv1821924
Chromosome Location	chr3:50902513-50912905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 345 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:345 , 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	rs190418813	chr3:50902534-50902535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530285937	chr3:50902546-50902547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528583102	chr3:50902551-50902552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535307720	chr3:50902590-50902591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181727911	chr3:50902591-50902592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185933288	chr3:50902699-50902700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570813826	chr3:50902752-50902753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534815100	chr3:50902773-50902774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547023800	chr3:50902843-50902844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373938815	chr3:50902870-50902871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565359189	chr3:50902936-50902937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568179423	chr3:50902938-50902939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2262847	chr3:50902953-50902954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190302882	chr3:50902961-50902962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575193335	chr3:50902972-50902973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550962113	chr3:50902979-50902980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112192965	chr3:50902990-50902991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9876984	chr3:50903063-50903064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557340679	chr3:50903121-50903122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2609030	chr3:50903143-50903144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1841067	chr3:50903207-50903208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561787540	chr3:50903334-50903335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573638851	chr3:50903354-50903355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182597001	chr3:50903380-50903381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548916573	chr3:50903393-50903394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563866135	chr3:50903435-50903436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567062377	chr3:50903437-50903438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531270222	chr3:50903442-50903443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141069130	chr3:50903456-50903457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139938033	chr3:50903466-50903467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552860744	chr3:50903522-50903523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138163070	chr3:50903548-50903549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528453858	chr3:50903573-50903574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142284933	chr3:50903634-50903635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568572043	chr3:50903723-50903724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375007140	chr3:50903740-50903741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141166124	chr3:50903768-50903769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150741500	chr3:50903809-50903810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567494944	chr3:50903822-50903823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568671339	chr3:50903844-50903845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539352369	chr3:50903851-50903852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574793831	chr3:50903876-50903877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137989594	chr3:50903878-50903879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572765339	chr3:50903893-50903894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533817603	chr3:50903901-50903902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35832182	chr3:50903909-50903910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568016800	chr3:50903910-50903911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397815607	chr3:50903924-50903925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114938769	chr3:50903929-50903930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367773269	chr3:50903968-50903969	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50897400-50910000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:50898400-50910200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:50905200-50910200	Weak transcription	Brain Substantia Nigra	brain
4	chr3:50909800-50910600	ZNF genes & repeats	Esophagus	oesophagus
5	chr3:50909800-50910800	Enhancers	GM12878-XiMat	blood
6	chr3:50910000-50911400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:50910200-50911200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:50910200-50911400	Enhancers	Brain Substantia Nigra	brain
9	chr3:50910200-50911400	Enhancers	Left Ventricle	heart
10	chr3:50910200-50911600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:50910400-50911000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:50910400-50911400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr3:50910400-50911400	Enhancers	Right Ventricle	heart
14	chr3:50910600-50911200	Enhancers	Brain Hippocampus Middle	brain
15	chr3:50910600-50911400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:50910600-50911600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:50910600-50912800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:50910800-50911000	Enhancers	Esophagus	oesophagus
19	chr3:50910800-50911200	Enhancers	Brain Anterior Caudate	brain
20	chr3:50910800-50911200	Enhancers	Brain Cingulate Gyrus	brain
21	chr3:50910800-50911400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:50910800-50911400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:50910800-50911400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr3:50910800-50911400	Flanking Active TSS	GM12878-XiMat	blood
25	chr3:50910800-50911600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:50910800-50911600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:50911000-50912000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:50911200-50914400	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:50911400-50911800	Enhancers	GM12878-XiMat	blood
30	chr3:50911400-50912400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:50911400-50912400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:50911400-50912400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:50911400-50912600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:50911600-50912000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:50911600-50912000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:50911600-50912000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:50912000-50913000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:50912000-50913200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:50912000-50913200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:50912200-50912800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr3:50912200-50913400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:50912400-50912600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:50912400-50912800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr3:50912400-50913000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:50912600-50912800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:50912600-50912800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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