Variant report

Variant	esv3330239
Chromosome Location	chr6:163267807-163268212
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	chr6:163258403..163260425-chr6:163266356..163268701,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532851277	chr6:163267828-163267829	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs180763253	chr6:163267854-163267855	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184998869	chr6:163267855-163267856	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs115742345	chr6:163267858-163267859	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs570958280	chr6:163267869-163267870	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs540601157	chr6:163267874-163267875	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539486228	chr6:163267893-163267894	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556328966	chr6:163267904-163267905	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576085188	chr6:163267957-163267958	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs143653983	chr6:163267961-163267962	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146487994	chr6:163267985-163267986	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572265440	chr6:163267992-163267993	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540972771	chr6:163268006-163268007	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557903841	chr6:163268013-163268014	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs577775094	chr6:163268017-163268018	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545874971	chr6:163268019-163268020	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs562668248	chr6:163268023-163268024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531594195	chr6:163268024-163268025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541861355	chr6:163268026-163268027	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561946556	chr6:163268034-163268035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527939021	chr6:163268038-163268039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565182149	chr6:163268042-163268043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547791168	chr6:163268056-163268057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113878615	chr6:163268061-163268062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs9355406	chr6:163268071-163268072	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373945279	chr6:163268081-163268082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs9356067	chr6:163268082-163268083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370613239	chr6:163268091-163268092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374352763	chr6:163268097-163268098	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs57986846	chr6:163268102-163268103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs367926952	chr6:163268103-163268104	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs9346935	chr6:163268118-163268119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533595656	chr6:163268132-163268133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs549900246	chr6:163268155-163268156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs66951565	chr6:163268161-163268162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs569810813	chr6:163268177-163268178	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Renal cell carcinoma	18592004	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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163265600-163270200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:163267000-163268000	Enhancers	Esophagus	oesophagus
3	chr6:163267000-163268200	ZNF genes & repeats	Pancreas	Pancrea
4	chr6:163267400-163275800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:163268000-163269000	Weak transcription	Fetal Heart	heart
6	chr6:163268200-163273200	Weak transcription	Pancreas	Pancrea

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