Variant report

Variant	esv3464240
Chromosome Location	chr3:50443265-50444738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50443137..50446145-chr3:50446726..50449794,4	K562	blood:
2	chr3:50443241..50445016-chr3:50452041..50453716,2	K562	blood:
3	chr3:50395965..50398568-chr3:50443812..50445898,2	K562	blood:
4	chr3:50439870..50442603-chr3:50444449..50445977,2	K562	blood:

Variant related genes	Relation type
ENSG00000126062	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74994278	chr3:50443329-50443330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74448976	chr3:50443341-50443342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538849573	chr3:50443426-50443427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577295413	chr3:50443429-50443430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553121186	chr3:50443437-50443438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146819982	chr3:50443594-50443595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77753325	chr3:50443601-50443602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370011001	chr3:50443605-50443606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575196525	chr3:50443610-50443611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557207497	chr3:50443647-50443648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140317678	chr3:50443686-50443687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145451400	chr3:50443695-50443696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183922961	chr3:50443768-50443769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542611338	chr3:50443769-50443770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573240434	chr3:50443806-50443807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540753144	chr3:50443813-50443814	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561380720	chr3:50443880-50443881	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561831409	chr3:50443885-50443886	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34906519	chr3:50443888-50443889	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138073690	chr3:50443914-50443915	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149107829	chr3:50443932-50443933	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143200613	chr3:50443942-50443943	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533119034	chr3:50443954-50443955	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541700084	chr3:50443977-50443978	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35109166	chr3:50443994-50443995	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs28593422	chr3:50443996-50443997	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148186481	chr3:50444017-50444018	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71982498	chr3:50444045-50444046	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374497200	chr3:50444046-50444047	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201073898	chr3:50444047-50444048	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35023524	chr3:50444052-50444053	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs397693761	chr3:50444053-50444054	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs34531536	chr3:50444054-50444055	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34700872	chr3:50444093-50444094	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533606693	chr3:50444100-50444101	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34452326	chr3:50444164-50444165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187698705	chr3:50444207-50444208	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567047657	chr3:50444218-50444219	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192224102	chr3:50444222-50444223	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557313208	chr3:50444324-50444325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575853567	chr3:50444328-50444329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539745810	chr3:50444354-50444355	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558106330	chr3:50444369-50444370	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115177372	chr3:50444394-50444395	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184474133	chr3:50444444-50444445	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562142331	chr3:50444447-50444448	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141159743	chr3:50444463-50444464	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544412869	chr3:50444476-50444477	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562553166	chr3:50444481-50444482	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563005573	chr3:50444534-50444535	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
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
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Neuroblastoma	20406844	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
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50442200-50444200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:50442200-50450800	Enhancers	Brain Germinal Matrix	brain
3	chr3:50442400-50443400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:50443200-50443400	Enhancers	Gastric	stomach
5	chr3:50443200-50445600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:50443400-50444000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:50443600-50460400	Weak transcription	Gastric	stomach
8	chr3:50444200-50445600	Enhancers	Spleen	Spleen

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