Variant report

Variant	esv3388233
Chromosome Location	chr6:165286590-165306722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 222 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9365796	chr6:165295018-165295019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76226593	chr6:165295055-165295056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527926809	chr6:165295066-165295067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368232476	chr6:165295069-165295070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547965127	chr6:165295071-165295072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570906997	chr6:165295090-165295091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150121191	chr6:165295120-165295121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556348020	chr6:165295155-165295156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569736192	chr6:165295157-165295158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535433579	chr6:165295159-165295160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386708295	chr6:165295169-165295170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9347936	chr6:165295170-165295171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9365797	chr6:165295179-165295180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73019640	chr6:165295186-165295187	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138518693	chr6:165295193-165295194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372786425	chr6:165295237-165295238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9347937	chr6:165295240-165295241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs35270648	chr6:165295257-165295258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573709371	chr6:165295281-165295282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547728128	chr6:165295291-165295292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373871713	chr6:165295302-165295303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562412788	chr6:165295405-165295406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527987667	chr6:165295409-165295410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188598479	chr6:165295440-165295441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202086091	chr6:165295478-165295479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34755537	chr6:165295496-165295497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60339779	chr6:165295498-165295499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192836238	chr6:165295513-165295514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564717011	chr6:165295521-165295522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533336576	chr6:165295554-165295555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185374301	chr6:165295561-165295562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569797849	chr6:165295590-165295591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535498280	chr6:165295591-165295592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55941391	chr6:165295649-165295650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548237382	chr6:165295723-165295724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565690696	chr6:165295735-165295736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116406786	chr6:165295751-165295752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370740969	chr6:165295756-165295757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548716876	chr6:165295768-165295769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9347938	chr6:165295828-165295829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141571162	chr6:165295848-165295849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186996105	chr6:165295850-165295851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527629265	chr6:165295862-165295863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536824597	chr6:165295925-165295926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557130281	chr6:165295937-165295938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145892752	chr6:165295955-165295956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9365798	chr6:165295961-165295962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs559397393	chr6:165296002-165296003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572716277	chr6:165296004-165296005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1022147	chr6:165296018-165296019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165295000-165296200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr6:165295000-165296600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:165295400-165296400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:165295600-165296400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr6:165295600-165296400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:165295800-165296600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr6:165296400-165298200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:165296400-165298200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:165298200-165299000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:165298200-165299200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:165298200-165299400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:165302800-165303000	Enhancers	Right Ventricle	heart
13	chr6:165303600-165303800	Flanking Bivalent TSS/Enh	Aorta	Aorta
14	chr6:165303600-165303800	Enhancers	Right Ventricle	heart
15	chr6:165303600-165304200	Enhancers	Fetal Heart	heart

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