Variant report

Variant	esv3463423
Chromosome Location	chr3:87701638-87703315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 68 )

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	rs536161692	chr3:87702635-87702636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376254888	chr3:87702693-87702694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554866053	chr3:87702720-87702721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78312390	chr3:87702779-87702780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534992049	chr3:87702793-87702794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553536685	chr3:87702799-87702800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578043756	chr3:87702801-87702802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369997387	chr3:87702848-87702849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545453233	chr3:87702858-87702859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs75766016	chr3:87702867-87702868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185243517	chr3:87702871-87702872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575752959	chr3:87702879-87702880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs542954075	chr3:87702881-87702882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs7630934	chr3:87702884-87702885	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7622310	chr3:87702921-87702922	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564864268	chr3:87702932-87702933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568002064	chr3:87702969-87702970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs532133189	chr3:87702980-87702981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190174857	chr3:87702994-87702995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376209877	chr3:87702997-87702998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs536944406	chr3:87702998-87702999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568968781	chr3:87703007-87703008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370849140	chr3:87703021-87703022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113402173	chr3:87703027-87703028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548530097	chr3:87703031-87703032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200960147	chr3:87703070-87703071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7635566	chr3:87703072-87703073	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12637643	chr3:87703127-87703128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566754906	chr3:87703129-87703130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186378866	chr3:87703158-87703159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148008348	chr3:87703188-87703189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87702600-87702800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:87702800-87703000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:87702800-87703600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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