Variant report

Variant	esv1800171
Chromosome Location	chr3:87658776-87669923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 379 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182701468	chr3:87662002-87662003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187567954	chr3:87662005-87662006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72615753	chr3:87662057-87662058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115515801	chr3:87662058-87662059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76113550	chr3:87662062-87662063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149101339	chr3:87662071-87662072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573452267	chr3:87662074-87662075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569631302	chr3:87662110-87662111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540443289	chr3:87662114-87662115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559217585	chr3:87662124-87662125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116173829	chr3:87662134-87662135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538198972	chr3:87662139-87662140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544199399	chr3:87662176-87662177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112079419	chr3:87662229-87662230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529781529	chr3:87662230-87662231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142168356	chr3:87662239-87662240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534137903	chr3:87662263-87662264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559945602	chr3:87662287-87662288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549819315	chr3:87662288-87662289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192736581	chr3:87662295-87662296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72925546	chr3:87662325-87662326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs151188594	chr3:87662348-87662349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375499983	chr3:87662356-87662357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531501292	chr3:87662371-87662372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73137467	chr3:87662372-87662373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9880962	chr3:87662380-87662381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs372765443	chr3:87662453-87662454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536769422	chr3:87662464-87662465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7649281	chr3:87662484-87662485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs566816965	chr3:87662506-87662507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183653549	chr3:87662518-87662519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66722006	chr3:87662529-87662530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577512892	chr3:87662548-87662549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538147981	chr3:87662568-87662569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200081871	chr3:87662666-87662667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147884747	chr3:87662742-87662743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569916062	chr3:87662786-87662787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141543687	chr3:87662801-87662802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371562101	chr3:87662859-87662860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559833256	chr3:87662871-87662872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150494504	chr3:87662907-87662908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189150688	chr3:87662928-87662929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138331154	chr3:87662947-87662948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531664722	chr3:87662973-87662974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192028099	chr3:87662981-87662982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377600166	chr3:87662985-87662986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373024300	chr3:87662986-87662987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149627624	chr3:87662999-87663000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111323868	chr3:87663018-87663019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143352503	chr3:87663032-87663033	Weak transcription	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87662000-87664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:87664200-87664600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr3:87664400-87664800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:87664400-87665000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:87664600-87664800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr3:87664800-87665200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:87664800-87669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:87666800-87667000	Bivalent Enhancer	Esophagus	oesophagus

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