Variant report

Variant	esv3513447
Chromosome Location	chr6:164542712-164548910
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	chr6:164542325..164544675-chr6:164545731..164548053,2	K562	blood:
2	chr6:164542325..164544675-chr6:164545731..164548053,2	K562	blood:

Extended variants
information (count: 219 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs146376025	chr6:164543417-164543418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs115230126	chr6:164543446-164543447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs377716756	chr6:164543480-164543481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs79612892	chr6:164543506-164543507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551383852	chr6:164543523-164543524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs573485107	chr6:164543524-164543525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200689276	chr6:164543546-164543547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528051606	chr6:164543558-164543559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545341204	chr6:164543572-164543573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558717898	chr6:164543624-164543625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575468341	chr6:164543652-164543653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9364719	chr6:164543674-164543675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144322835	chr6:164543709-164543710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9365659	chr6:164543739-164543740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9365660	chr6:164543741-164543742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561457240	chr6:164543745-164543746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146538270	chr6:164543763-164543764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540633947	chr6:164543767-164543768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560139362	chr6:164543779-164543780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532442397	chr6:164543815-164543816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58304519	chr6:164543816-164543817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149947433	chr6:164543817-164543818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531564457	chr6:164543840-164543841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28485667	chr6:164543859-164543860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9968803	chr6:164543881-164543882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9295255	chr6:164543882-164543883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59821641	chr6:164543884-164543885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397778806	chr6:164543898-164543899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149124782	chr6:164543920-164543921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113309594	chr6:164543991-164543992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568163395	chr6:164544014-164544015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113205711	chr6:164544038-164544039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9458997	chr6:164544062-164544063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533577312	chr6:164544063-164544064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67822592	chr6:164544064-164544065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76290404	chr6:164544067-164544068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571269763	chr6:164544116-164544117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566432467	chr6:164544127-164544128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570196759	chr6:164544145-164544146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570153785	chr6:164544148-164544149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10945959	chr6:164544149-164544150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113524866	chr6:164544196-164544197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78905215	chr6:164544252-164544253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558851916	chr6:164544282-164544283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373821612	chr6:164544286-164544287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144401998	chr6:164544307-164544308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554728681	chr6:164544308-164544309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533770359	chr6:164544312-164544313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186169885	chr6:164544313-164544314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538698233	chr6:164544318-164544319	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164543400-164543600	ZNF genes & repeats	Pancreas	Pancrea
2	chr6:164543600-164544600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:164543600-164554400	Weak transcription	Pancreas	Pancrea
4	chr6:164544600-164544800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:164544800-164546200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:164546200-164546400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:164548600-164549000	Weak transcription	Fetal Heart	heart
8	chr6:164548800-164549000	Enhancers	Right Ventricle	heart

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