Variant report

Variant	esv3391488
Chromosome Location	chr6:165343412-165346960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 364 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:364 , 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	rs573033386	chr6:165343445-165343446	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540056280	chr6:165343473-165343474	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs118088750	chr6:165343482-165343483	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189592268	chr6:165343510-165343511	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs150198677	chr6:165343538-165343539	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs4709907	chr6:165343544-165343545	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2093442	chr6:165343557-165343558	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs551430120	chr6:165343558-165343559	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560224868	chr6:165343570-165343571	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs4709064	chr6:165343575-165343576	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4709065	chr6:165343584-165343585	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538050206	chr6:165343600-165343601	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567881204	chr6:165343601-165343602	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546790683	chr6:165343614-165343615	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs78805756	chr6:165343627-165343628	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138734856	chr6:165343640-165343641	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368515477	chr6:165343669-165343670	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532371421	chr6:165343688-165343689	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs180913307	chr6:165343704-165343705	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186342807	chr6:165343719-165343720	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566441750	chr6:165343739-165343740	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533927575	chr6:165343741-165343742	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555256330	chr6:165343759-165343760	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573808777	chr6:165343772-165343773	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550775329	chr6:165343775-165343776	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574941633	chr6:165343810-165343811	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs544151271	chr6:165343815-165343816	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs4709066	chr6:165343842-165343843	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191039123	chr6:165343885-165343886	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181462503	chr6:165343900-165343901	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368888545	chr6:165343999-165344000	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186241820	chr6:165344077-165344078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149531608	chr6:165344097-165344098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146041736	chr6:165344131-165344132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139916419	chr6:165344149-165344150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11751918	chr6:165344152-165344153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141759146	chr6:165344161-165344162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554545753	chr6:165344166-165344167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532903310	chr6:165344207-165344208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377702575	chr6:165344213-165344214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551385986	chr6:165344234-165344235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566497256	chr6:165344278-165344279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200394005	chr6:165344295-165344296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375083394	chr6:165344297-165344298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146077529	chr6:165344301-165344302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61718399	chr6:165344308-165344309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9365817	chr6:165344317-165344318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60775618	chr6:165344322-165344323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191160004	chr6:165344340-165344341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13196801	chr6:165344350-165344351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165333200-165346200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:165340800-165344000	Active TSS	Brain Anterior Caudate	brain
3	chr6:165343200-165347400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:165343400-165343800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:165343400-165343800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:165346200-165346600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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