Variant report

Variant	esv1810168
Chromosome Location	chr6:161028822-161038691
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	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:

Extended variants
information (count: 375 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:375 , 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	rs566018120	chr6:161028830-161028831	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531513674	chr6:161028848-161028849	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6926896	chr6:161028908-161028909	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561748678	chr6:161028950-161028951	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527376280	chr6:161028951-161028952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547505749	chr6:161028952-161028953	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548142716	chr6:161029045-161029046	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570947920	chr6:161029096-161029097	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540086051	chr6:161029122-161029123	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550405823	chr6:161029126-161029127	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570330047	chr6:161029136-161029137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568035354	chr6:161029142-161029143	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147446174	chr6:161029187-161029188	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556884174	chr6:161029200-161029201	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555453686	chr6:161029206-161029207	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139873124	chr6:161029214-161029215	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375356622	chr6:161029229-161029230	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185569108	chr6:161029263-161029264	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558275894	chr6:161029318-161029319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577716915	chr6:161029324-161029325	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545555863	chr6:161029340-161029341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79975507	chr6:161029355-161029356	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536750289	chr6:161029401-161029402	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542137745	chr6:161029435-161029436	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189227376	chr6:161029437-161029438	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527324424	chr6:161029444-161029445	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192545470	chr6:161029445-161029446	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78350869	chr6:161029449-161029450	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143910891	chr6:161029453-161029454	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113291404	chr6:161029471-161029472	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570289555	chr6:161029488-161029489	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529595315	chr6:161029527-161029528	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549689307	chr6:161029552-161029553	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565935890	chr6:161029578-161029579	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369073911	chr6:161029608-161029609	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534968299	chr6:161029627-161029628	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539251698	chr6:161029629-161029630	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139139105	chr6:161029641-161029642	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553061565	chr6:161029647-161029648	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374323384	chr6:161029650-161029651	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149938300	chr6:161029666-161029667	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116850263	chr6:161029670-161029671	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183988220	chr6:161029703-161029704	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145012266	chr6:161029704-161029705	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541750338	chr6:161029717-161029718	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148682024	chr6:161029719-161029720	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188718546	chr6:161029720-161029721	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13202636	chr6:161029728-161029729	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs143726105	chr6:161029739-161029740	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547856637	chr6:161029746-161029747	Strong transcription	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	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
Carotid artery disease	21127300	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:161026200-161029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:161031200-161031800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
4	chr6:161031800-161032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:161032000-161032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:161032600-161034200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:161032600-161034400	Weak transcription	Liver	Liver

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