Variant report

Variant	esv3324522
Chromosome Location	chr3:34291348-34293496
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	chr3:34286135..34288097-chr3:34290697..34293518,2	K562	blood:
2	chr3:34285723..34288551-chr3:34291607..34294875,3	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2336570	chr3:34291378-34291379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141386641	chr3:34291442-34291443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527850176	chr3:34291461-34291462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538683303	chr3:34291482-34291483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556905853	chr3:34291535-34291536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547782619	chr3:34291552-34291553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569484624	chr3:34291558-34291559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536931573	chr3:34291625-34291626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534141165	chr3:34291667-34291668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554937134	chr3:34291677-34291678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150972873	chr3:34291678-34291679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540390410	chr3:34291679-34291680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558632717	chr3:34291761-34291762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112665159	chr3:34291783-34291784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184268476	chr3:34291792-34291793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140830314	chr3:34291822-34291823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150151883	chr3:34291870-34291871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530011758	chr3:34291876-34291877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372575976	chr3:34291883-34291884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542920337	chr3:34291885-34291886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200375960	chr3:34291886-34291887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528298666	chr3:34291905-34291906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530083680	chr3:34291908-34291909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546813176	chr3:34291952-34291953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571406552	chr3:34291981-34291982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532230086	chr3:34292034-34292035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147794274	chr3:34292065-34292066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568856970	chr3:34292080-34292081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141261026	chr3:34292094-34292095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555256422	chr3:34292152-34292153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566780485	chr3:34292179-34292180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188262781	chr3:34292204-34292205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191475543	chr3:34292206-34292207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377561654	chr3:34292208-34292209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71070184	chr3:34292211-34292212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577942377	chr3:34292212-34292213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76120345	chr3:34292215-34292216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74517104	chr3:34292217-34292218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556345969	chr3:34292223-34292224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535094574	chr3:34292230-34292231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374044750	chr3:34292231-34292232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35767029	chr3:34292243-34292244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71615371	chr3:34292244-34292245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574782200	chr3:34292252-34292253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575629224	chr3:34292263-34292264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568684459	chr3:34292265-34292266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71614113	chr3:34292266-34292267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573113164	chr3:34292269-34292270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200706495	chr3:34292275-34292276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60327438	chr3:34292278-34292279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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	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
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
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34285800-34293600	Weak transcription	Aorta	Aorta
2	chr3:34289800-34291400	Enhancers	Thymus	Thymus
3	chr3:34291400-34297000	Weak transcription	Thymus	Thymus
4	chr3:34292600-34297400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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