Variant report

Variant	esv1797342
Chromosome Location	chr6:161027972-161038691
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: 426 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529888591	chr6:161027972-161027973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546776882	chr6:161028019-161028020	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566608574	chr6:161028025-161028026	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532450391	chr6:161028032-161028033	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551727045	chr6:161028091-161028092	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563793579	chr6:161028092-161028093	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531496380	chr6:161028105-161028106	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568538925	chr6:161028119-161028120	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537529686	chr6:161028177-161028178	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554282299	chr6:161028200-161028201	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550128899	chr6:161028223-161028224	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367871487	chr6:161028225-161028226	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368216313	chr6:161028247-161028248	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149625786	chr6:161028280-161028281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372456134	chr6:161028282-161028283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190905188	chr6:161028301-161028302	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577434378	chr6:161028309-161028310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540160459	chr6:161028326-161028327	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183047990	chr6:161028342-161028343	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576541672	chr6:161028363-161028364	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542334069	chr6:161028369-161028370	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561993659	chr6:161028381-161028382	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186995899	chr6:161028390-161028391	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540018455	chr6:161028393-161028394	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560316522	chr6:161028397-161028398	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532282346	chr6:161028434-161028435	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552085873	chr6:161028445-161028446	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191774295	chr6:161028452-161028453	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531249602	chr6:161028463-161028464	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183176905	chr6:161028487-161028488	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568026812	chr6:161028533-161028534	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374200917	chr6:161028541-161028542	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143387154	chr6:161028545-161028546	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571052922	chr6:161028548-161028549	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs41269890	chr6:161028550-161028551	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556936898	chr6:161028565-161028566	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576502563	chr6:161028568-161028569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368880067	chr6:161028592-161028593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549716764	chr6:161028610-161028611	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563859260	chr6:161028636-161028637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148384419	chr6:161028662-161028663	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9457952	chr6:161028667-161028668	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117779377	chr6:161028674-161028675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541541416	chr6:161028691-161028692	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187463812	chr6:161028699-161028700	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9457953	chr6:161028707-161028708	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74190405	chr6:161028714-161028715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs41269888	chr6:161028726-161028727	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62441703	chr6:161028727-161028728	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs41269886	chr6:161028742-161028743	Strong transcription Weak 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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