Variant report

Variant	esv3437452
Chromosome Location	chr6:102155009-102156107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:102153395..102155355-chr6:102159822..102161608,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188795736	chr6:102155041-102155042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73510682	chr6:102155057-102155058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191422379	chr6:102155071-102155072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532886184	chr6:102155121-102155122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77102759	chr6:102155165-102155166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73764508	chr6:102155184-102155185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536681838	chr6:102155288-102155289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7771050	chr6:102155328-102155329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543407720	chr6:102155337-102155338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201036760	chr6:102155408-102155409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201755180	chr6:102155411-102155412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200031147	chr6:102155417-102155418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552239389	chr6:102155418-102155419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151005066	chr6:102155427-102155428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530552125	chr6:102155432-102155433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56168617	chr6:102155453-102155454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577712164	chr6:102155454-102155455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71984984	chr6:102155458-102155459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398002444	chr6:102155469-102155470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201917715	chr6:102155475-102155476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375549466	chr6:102155477-102155478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368520499	chr6:102155479-102155480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200108599	chr6:102155481-102155482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537104737	chr6:102155482-102155483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11757119	chr6:102155483-102155484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534783797	chr6:102155495-102155496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146698269	chr6:102155561-102155562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572457262	chr6:102155603-102155604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562105136	chr6:102155622-102155623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558327626	chr6:102155652-102155653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116162930	chr6:102155725-102155726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569300515	chr6:102155764-102155765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543857369	chr6:102155809-102155810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562370621	chr6:102155842-102155843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12215026	chr6:102155905-102155906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1415481	chr6:102155912-102155913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148384808	chr6:102155966-102155967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559687725	chr6:102155974-102155975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533388005	chr6:102156021-102156022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551045398	chr6:102156025-102156026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563069570	chr6:102156049-102156050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530397709	chr6:102156050-102156051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548719911	chr6:102156051-102156052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548519426	chr6:102156060-102156061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534617657	chr6:102156063-102156064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73764509	chr6:102156077-102156078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112835650	chr6:102156106-102156107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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	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	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102149400-102158000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:102154400-102155200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:102154800-102158000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:102154800-102158000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:102155200-102170600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:102155800-102156000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:102156000-102157800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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