Variant report

Variant	esv2164578
Chromosome Location	chr3:67832433-67833130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72930821	chr3:67832445-67832446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192333868	chr3:67832451-67832452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181523513	chr3:67832455-67832456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149888577	chr3:67832456-67832457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552798120	chr3:67832510-67832511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147551248	chr3:67832540-67832541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531311274	chr3:67832560-67832561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547859173	chr3:67832566-67832567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567755836	chr3:67832572-67832573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533636277	chr3:67832690-67832691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9873132	chr3:67832725-67832726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13316172	chr3:67832733-67832734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562591545	chr3:67832754-67832755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201625893	chr3:67832764-67832765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142978874	chr3:67832767-67832768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200133747	chr3:67832768-67832769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10568810	chr3:67832781-67832782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570269985	chr3:67832783-67832784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187057767	chr3:67832830-67832831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370998680	chr3:67832850-67832851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375427782	chr3:67832854-67832855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111840053	chr3:67832856-67832857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9821449	chr3:67832859-67832860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71109898	chr3:67832877-67832878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374271208	chr3:67832878-67832879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531651013	chr3:67832927-67832928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71310791	chr3:67833028-67833029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78437525	chr3:67833032-67833033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190613788	chr3:67833050-67833051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146104257	chr3:67833096-67833097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147828934	chr3:67833106-67833107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67832000-67832600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:67832600-67833600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:67833000-67833800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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