Variant report

Variant	esv3323445
Chromosome Location	chr6:145999759-146003957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs139748802	chr6:145999792-145999793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs7749377	chr6:145999815-145999816	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553506039	chr6:145999829-145999830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188008879	chr6:145999835-145999836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs369295122	chr6:145999841-145999842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs146596504	chr6:145999847-145999848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191028976	chr6:145999848-145999849	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546065382	chr6:145999884-145999885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs564169553	chr6:145999919-145999920	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs702308	chr6:145999965-145999966	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs141055613	chr6:145999984-145999985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149786388	chr6:146000008-146000009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs567829626	chr6:146000012-146000013	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs702309	chr6:146000044-146000045	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs148965430	chr6:146000054-146000055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs183822575	chr6:146000090-146000091	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs537384412	chr6:146000100-146000101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572094705	chr6:146000167-146000168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201067458	chr6:146000186-146000187	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs559199003	chr6:146000253-146000254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs571009229	chr6:146000316-146000317	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376909154	chr6:146000320-146000321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371641665	chr6:146000323-146000324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs13212648	chr6:146000341-146000342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs535242605	chr6:146000382-146000383	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs117920128	chr6:146000410-146000411	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575007984	chr6:146000415-146000416	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138322357	chr6:146000434-146000435	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566137951	chr6:146000450-146000451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369816523	chr6:146000515-146000516	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557112782	chr6:146000541-146000542	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199874332	chr6:146000599-146000600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114648975	chr6:146000600-146000601	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374091717	chr6:146000718-146000719	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560926596	chr6:146000796-146000797	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564412078	chr6:146000884-146000885	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188215447	chr6:146000915-146000916	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2068029	chr6:146000991-146000992	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6918350	chr6:146001024-146001025	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142257063	chr6:146001033-146001034	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192924165	chr6:146001034-146001035	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562399701	chr6:146001050-146001051	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557334881	chr6:146001062-146001063	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528003218	chr6:146001186-146001187	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182871996	chr6:146001268-146001269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6919173	chr6:146001297-146001298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571141384	chr6:146001335-146001336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535309289	chr6:146001357-146001358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563737316	chr6:146001368-146001369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553631689	chr6:146001397-146001398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	21448237	CNVD
Autism	22495311	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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145951000-146003000	Weak transcription	Thymus	Thymus
2	chr6:145951400-146003000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:145974200-146002800	Weak transcription	Liver	Liver
4	chr6:145974800-146003600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:145980600-146010800	Weak transcription	Right Ventricle	heart
6	chr6:145982800-146003000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:145984400-146003000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:145986600-146006400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:145987600-146003000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:145988200-146002800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:145988400-146003000	Weak transcription	Adipose Nuclei	Adipose
12	chr6:145988400-146003000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:145988600-146002800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:145988600-146003000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:145988600-146003000	Weak transcription	Brain Substantia Nigra	brain
16	chr6:145989800-146003000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:145990200-146003000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:145990600-146004400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:145990800-146002800	Weak transcription	Brain Anterior Caudate	brain
20	chr6:145991000-146003200	Weak transcription	Fetal Thymus	thymus
21	chr6:145991200-146002800	Weak transcription	Ovary	ovary
22	chr6:145991200-146003000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:145991200-146008800	Weak transcription	Brain Angular Gyrus	brain
24	chr6:145991600-146002800	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:145991800-146002800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:145991800-146009200	Weak transcription	NHDF-Ad	bronchial
27	chr6:145992400-146003000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:145994200-146002800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:145994600-146007000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:145994800-146002800	Weak transcription	Primary B cells from cord blood	blood
31	chr6:145994800-146008400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:145995000-146010800	Weak transcription	Left Ventricle	heart
33	chr6:145995200-146003000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:145995200-146004000	Weak transcription	Fetal Stomach	stomach
35	chr6:145995200-146006400	Weak transcription	Lung	lung
36	chr6:145995200-146013200	Weak transcription	Pancreas	Pancrea
37	chr6:145995400-146003200	Weak transcription	Aorta	Aorta
38	chr6:145995600-146000400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:145998000-146003200	Weak transcription	Fetal Brain Male	brain
40	chr6:145998800-146010800	Weak transcription	HSMMtube	muscle
41	chr6:145999000-146001200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:145999000-146010800	Weak transcription	Psoas Muscle	Psoas
43	chr6:145999400-146003000	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:145999600-146002800	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:145999600-146008600	Weak transcription	Fetal Intestine Large	intestine
46	chr6:146000000-146002800	Weak transcription	Brain Germinal Matrix	brain
47	chr6:146000000-146002800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:146000400-146001200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:146000600-146003400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:146000600-146010600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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