Variant report

Variant	esv3359583
Chromosome Location	chr3:90151912-90154010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376709207	chr3:90151923-90151924	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376653006	chr3:90151975-90151976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544262923	chr3:90151976-90151977	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563047714	chr3:90152001-90152002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147530990	chr3:90152002-90152003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547445039	chr3:90152006-90152007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140242010	chr3:90152012-90152013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373928051	chr3:90152096-90152097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145345138	chr3:90152152-90152153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569858805	chr3:90152154-90152155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535640250	chr3:90152172-90152173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549195624	chr3:90152193-90152194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566006110	chr3:90152203-90152204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114496482	chr3:90152209-90152210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553449286	chr3:90152216-90152217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182847000	chr3:90152222-90152223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539108481	chr3:90152249-90152250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185645924	chr3:90152313-90152314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369669030	chr3:90152322-90152323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147657595	chr3:90152352-90152353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115150109	chr3:90152359-90152360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561883968	chr3:90152401-90152402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9849053	chr3:90152502-90152503	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs189934306	chr3:90152538-90152539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564273775	chr3:90152551-90152552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533355543	chr3:90152573-90152574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182620819	chr3:90152619-90152620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563421923	chr3:90152620-90152621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529370027	chr3:90152628-90152629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187745760	chr3:90152636-90152637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148718823	chr3:90152643-90152644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565942864	chr3:90152668-90152669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528733194	chr3:90152676-90152677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371504547	chr3:90152735-90152736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57150505	chr3:90152775-90152776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568378954	chr3:90152779-90152780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60066061	chr3:90152785-90152786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549664294	chr3:90152842-90152843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142318597	chr3:90152853-90152854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561421502	chr3:90152858-90152859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571887059	chr3:90152889-90152890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561550262	chr3:90152910-90152911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193123508	chr3:90152911-90152912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556221139	chr3:90153002-90153003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569737486	chr3:90153013-90153014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116414806	chr3:90153025-90153026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550301953	chr3:90153033-90153034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151277847	chr3:90153045-90153046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540911478	chr3:90153060-90153061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558018849	chr3:90153076-90153077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
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
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90136600-90156400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:90145800-90153400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:90146000-90154000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:90150600-90152600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:90151800-90152000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr3:90152600-90154400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:90153400-90153600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr3:90153600-90159000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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