Variant report

Variant	esv3350270
Chromosome Location	chr6:160916345-160920364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:160918427..160920098-chr6:160939899..160941930,2	K562	blood:
2	chr6:160919688..160921620-chr6:160926024..160927581,2	K562	blood:
3	chr6:160915674..160918470-chr6:160928618..160930503,2	K562	blood:

Extended variants
information (count: 197 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139050665	chr6:160916471-160916472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149895570	chr6:160916481-160916482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544469264	chr6:160916484-160916485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561266601	chr6:160916485-160916486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560933529	chr6:160916508-160916509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540867509	chr6:160916519-160916520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143956256	chr6:160916530-160916531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114531061	chr6:160916548-160916549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73594816	chr6:160916556-160916557	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551529677	chr6:160916559-160916560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564898409	chr6:160916566-160916567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143847652	chr6:160916573-160916574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530751036	chr6:160916610-160916611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550849586	chr6:160916622-160916623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76478899	chr6:160916663-160916664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536246266	chr6:160916664-160916665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546666708	chr6:160916667-160916668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566541329	chr6:160916673-160916674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140732637	chr6:160916674-160916675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62441874	chr6:160916676-160916677	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs201964490	chr6:160916697-160916698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371562050	chr6:160916703-160916704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3127568	chr6:160916827-160916828	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs368488412	chr6:160916834-160916835	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183427708	chr6:160916841-160916842	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554801249	chr6:160916852-160916853	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560423741	chr6:160916867-160916868	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs142987171	chr6:160916899-160916900	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111744100	chr6:160916924-160916925	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs117232872	chr6:160916930-160916931	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs35843339	chr6:160916938-160916939	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs151027638	chr6:160916946-160916947	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs563555594	chr6:160916970-160916971	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117975071	chr6:160917011-160917012	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545955919	chr6:160917063-160917064	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs77444677	chr6:160917068-160917069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs530685667	chr6:160917070-160917071	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs79864231	chr6:160917087-160917088	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs184846890	chr6:160917112-160917113	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs12212724	chr6:160917135-160917136	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530046025	chr6:160917140-160917141	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs114577566	chr6:160917151-160917152	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114020634	chr6:160917159-160917160	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538649690	chr6:160917187-160917188	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs576414449	chr6:160917194-160917195	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs56076443	chr6:160917203-160917204	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568619669	chr6:160917235-160917236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538037463	chr6:160917236-160917237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552198024	chr6:160917306-160917307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554786892	chr6:160917308-160917309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	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
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	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
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160884400-160928200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:160893800-160921800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:160893800-160923200	Strong transcription	Liver	Liver
4	chr6:160894800-160923800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:160897800-160923000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:160898000-160922800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:160900400-160923400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:160902000-160921000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:160902800-160923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:160903400-160923400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:160903600-160923800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:160903600-160924000	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:160904400-160920600	Weak transcription	Pancreas	Pancrea
14	chr6:160904800-160924000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:160905200-160923000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:160905400-160923400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:160905400-160924800	Weak transcription	Ovary	ovary
18	chr6:160908200-160916800	Weak transcription	Aorta	Aorta
19	chr6:160908200-160920800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:160912000-160924000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:160913000-160921000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:160913200-160922200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:160913800-160920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:160914200-160920400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:160914400-160919400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:160916800-160917200	ZNF genes & repeats	Aorta	Aorta
27	chr6:160917200-160918400	Weak transcription	Aorta	Aorta
28	chr6:160918400-160919000	Strong transcription	Aorta	Aorta
29	chr6:160919000-160920600	Weak transcription	Aorta	Aorta
30	chr6:160919400-160922400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:160919400-160923000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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