Variant report

Variant	esv3406444
Chromosome Location	chr6:161023828-161029441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:
2	chr6:161019352..161022051-chr6:161023813..161026327,2	K562	blood:
3	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:

Extended variants
information (count: 325 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552445132	chr6:161023831-161023832	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78267170	chr6:161023873-161023874	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531513672	chr6:161023894-161023895	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547746484	chr6:161023914-161023915	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558899644	chr6:161023917-161023918	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540842485	chr6:161023948-161023949	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144891453	chr6:161023961-161023962	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371358547	chr6:161024027-161024028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553618747	chr6:161024033-161024034	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397888388	chr6:161024044-161024045	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397887092	chr6:161024045-161024046	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571013932	chr6:161024053-161024054	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149043423	chr6:161024070-161024071	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554970569	chr6:161024154-161024155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77651956	chr6:161024155-161024156	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144657490	chr6:161024156-161024157	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6940254	chr6:161024171-161024172	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187577879	chr6:161024177-161024178	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572508505	chr6:161024186-161024187	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541507278	chr6:161024192-161024193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543074810	chr6:161024202-161024203	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138609209	chr6:161024226-161024227	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533472335	chr6:161024244-161024245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545642947	chr6:161024250-161024251	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562355518	chr6:161024259-161024260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143056855	chr6:161024265-161024266	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72482597	chr6:161024266-161024267	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531471281	chr6:161024267-161024268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548105072	chr6:161024289-161024290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79018195	chr6:161024291-161024292	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9457950	chr6:161024293-161024294	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60600357	chr6:161024296-161024297	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547465052	chr6:161024332-161024333	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570404759	chr6:161024358-161024359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563039253	chr6:161024360-161024361	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539529872	chr6:161024365-161024366	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532038286	chr6:161024458-161024459	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550079151	chr6:161024544-161024545	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115555831	chr6:161024545-161024546	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536141608	chr6:161024565-161024566	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556137303	chr6:161024580-161024581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111672621	chr6:161024624-161024625	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552135219	chr6:161024625-161024626	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571815326	chr6:161024672-161024673	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs41270988	chr6:161024748-161024749	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571862592	chr6:161024778-161024779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9365179	chr6:161024848-161024849	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs548010374	chr6:161024888-161024889	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202181210	chr6:161024900-161024901	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543915597	chr6:161024905-161024906	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:161022200-161025000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:161025000-161026200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:161026200-161029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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