Variant report

Variant	esv3396851
Chromosome Location	chr3:34722439-34722925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6550289	chr3:34722498-34722499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186026860	chr3:34722505-34722506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35120552	chr3:34722506-34722507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190789144	chr3:34722521-34722522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35411121	chr3:34722548-34722549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568405735	chr3:34722568-34722569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182664958	chr3:34722587-34722588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573207728	chr3:34722592-34722593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540341772	chr3:34722603-34722604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373234828	chr3:34722605-34722606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146305249	chr3:34722606-34722607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34308852	chr3:34722621-34722622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544445036	chr3:34722635-34722636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76158966	chr3:34722685-34722686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550956637	chr3:34722686-34722687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530359437	chr3:34722776-34722777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143680269	chr3:34722793-34722794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559864817	chr3:34722827-34722828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527283854	chr3:34722830-34722831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7614543	chr3:34722835-34722836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570566141	chr3:34722839-34722840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11715912	chr3:34722867-34722868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11708235	chr3:34722895-34722896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574452349	chr3:34722903-34722904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187980743	chr3:34722904-34722905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	21364760	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34719800-34722600	Enhancers	K562	blood
2	chr3:34722200-34734400	Weak transcription	Thymus	Thymus

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