Variant report

Variant	esv3399869
Chromosome Location	chr6:160911465-160917156
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	chr6:160915674..160918470-chr6:160928618..160930503,2	K562	blood:

Extended variants
information (count: 326 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:326 , 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	rs73784216	chr6:160911475-160911476	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572076635	chr6:160911484-160911485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376890788	chr6:160911485-160911486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537388183	chr6:160911495-160911496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76037141	chr6:160911533-160911534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554159673	chr6:160911591-160911592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147555597	chr6:160911596-160911597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77635288	chr6:160911611-160911612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192507312	chr6:160911619-160911620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545607343	chr6:160911622-160911623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571400170	chr6:160911631-160911632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57530646	chr6:160911672-160911673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59895369	chr6:160911679-160911680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9347407	chr6:160911682-160911683	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561439593	chr6:160911691-160911692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529997723	chr6:160911729-160911730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367781258	chr6:160911760-160911761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116804616	chr6:160911764-160911765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140316009	chr6:160911778-160911779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538789402	chr6:160911804-160911805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551147736	chr6:160911819-160911820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562540768	chr6:160911825-160911826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536866536	chr6:160911858-160911859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531873011	chr6:160911876-160911877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183391429	chr6:160911885-160911886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9365166	chr6:160911908-160911909	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34732647	chr6:160911913-160911914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374239711	chr6:160911919-160911920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537293611	chr6:160911934-160911935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139438544	chr6:160911935-160911936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558560147	chr6:160911977-160911978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186641754	chr6:160911997-160911998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545151355	chr6:160911998-160911999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577099301	chr6:160911999-160912000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56353823	chr6:160912016-160912017	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113615275	chr6:160912025-160912026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56411319	chr6:160912046-160912047	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs58260600	chr6:160912055-160912056	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530373637	chr6:160912056-160912057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189912586	chr6:160912071-160912072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560150609	chr6:160912074-160912075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532449910	chr6:160912100-160912101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573972708	chr6:160912117-160912118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372654657	chr6:160912118-160912119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9355805	chr6:160912130-160912131	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569259066	chr6:160912159-160912160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140547878	chr6:160912169-160912170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367816514	chr6:160912185-160912186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550191584	chr6:160912211-160912212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550547170	chr6:160912227-160912228	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:48 , 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	chr6:160894400-160915200	Weak transcription	Esophagus	oesophagus
5	chr6:160894800-160923800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:160897000-160914200	Weak transcription	Gastric	stomach
7	chr6:160897800-160923000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:160898000-160922800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:160900400-160923400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:160902000-160921000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:160902200-160914200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:160902800-160915400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:160902800-160923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:160903000-160913200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:160903200-160914000	Weak transcription	Brain Angular Gyrus	brain
16	chr6:160903400-160913800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:160903400-160923400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:160903600-160912400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:160903600-160923800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:160903600-160924000	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:160904400-160920600	Weak transcription	Pancreas	Pancrea
22	chr6:160904600-160912000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:160904800-160924000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:160905200-160923000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:160905400-160923400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:160905400-160924800	Weak transcription	Ovary	ovary
27	chr6:160908000-160912200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:160908200-160916800	Weak transcription	Aorta	Aorta
29	chr6:160908200-160920800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:160908400-160912400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:160908800-160911800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:160911200-160912000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:160911400-160913200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:160911400-160914200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr6:160911800-160914400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:160912000-160913200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr6:160912000-160924000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:160912200-160913200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:160912400-160913000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:160912400-160913800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:160913000-160921000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:160913200-160914800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:160913200-160915000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:160913200-160922200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr6:160913800-160920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:160914200-160920400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:160914400-160919400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:160916800-160917200	ZNF genes & repeats	Aorta	Aorta

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