Variant report

Variant	esv2421937
Chromosome Location	chr6:87406640-87412973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 267 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538254944	chr6:87406643-87406644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553439268	chr6:87406653-87406654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74974846	chr6:87406668-87406669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115074040	chr6:87406670-87406671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142421112	chr6:87406706-87406707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550865790	chr6:87406724-87406725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543981626	chr6:87406737-87406738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190131383	chr6:87406762-87406763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34460884	chr6:87406806-87406807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569302004	chr6:87406811-87406812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115536233	chr6:87406901-87406902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561343614	chr6:87406910-87406911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527615843	chr6:87406915-87406916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151294267	chr6:87406954-87406955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567499038	chr6:87406955-87406956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376315418	chr6:87406963-87406964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563187169	chr6:87406965-87406966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549522136	chr6:87406976-87406977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576761970	chr6:87407004-87407005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77648968	chr6:87407007-87407008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567280816	chr6:87407011-87407012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538320822	chr6:87407018-87407019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575041360	chr6:87407041-87407042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560709530	chr6:87407055-87407056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80003217	chr6:87407073-87407074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112489393	chr6:87407112-87407113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181496798	chr6:87407146-87407147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186508316	chr6:87407149-87407150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544040276	chr6:87407154-87407155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372335075	chr6:87407177-87407178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56072202	chr6:87407179-87407180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138276894	chr6:87407226-87407227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541150402	chr6:87407253-87407254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559724746	chr6:87407268-87407269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141240643	chr6:87407309-87407310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542946758	chr6:87407351-87407352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574902184	chr6:87407388-87407389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs495509	chr6:87407404-87407405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531452772	chr6:87407419-87407420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190847606	chr6:87407435-87407436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576951227	chr6:87407443-87407444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576007379	chr6:87407460-87407461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144952188	chr6:87407490-87407491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532113257	chr6:87407618-87407619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547155864	chr6:87407638-87407639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367629268	chr6:87407644-87407645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540934911	chr6:87407655-87407656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535862229	chr6:87407685-87407686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554509783	chr6:87407716-87407717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138159075	chr6:87407720-87407721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87406000-87410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:87409600-87410600	Enhancers	K562	blood
3	chr6:87410200-87412400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:87412400-87412800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:87412400-87413000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:87412800-87413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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