Variant report

Variant	esv2761020
Chromosome Location	chr6:141359775-141383132
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	chr6:141368847..141371211-chr6:141441776..141443428,2	K562	blood:
2	chr6:141356659..141359545-chr6:141368726..141370733,2	K562	blood:

Extended variants
information (count: 331 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:331 , 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	rs188793646	chr6:141362611-141362612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs558042234	chr6:141362709-141362710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs112230765	chr6:141362722-141362723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2876463	chr6:141362736-141362737	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112920493	chr6:141362737-141362738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369524842	chr6:141362740-141362741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562072241	chr6:141362742-141362743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528907571	chr6:141362749-141362750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs4532454	chr6:141362773-141362774	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544748716	chr6:141362778-141362779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562957475	chr6:141362780-141362781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs386706451	chr6:141362800-141362801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530744868	chr6:141362822-141362823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs543693681	chr6:141362835-141362836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs138238448	chr6:141362837-141362838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs376602570	chr6:141362838-141362839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561369823	chr6:141362841-141362842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs181353990	chr6:141362842-141362843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568092586	chr6:141362853-141362854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs118185978	chr6:141362855-141362856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs9376567	chr6:141362860-141362861	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568577882	chr6:141362861-141362862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571737576	chr6:141362889-141362890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558282113	chr6:141362911-141362912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573465739	chr6:141362931-141362932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540970208	chr6:141362936-141362937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs184578882	chr6:141362977-141362978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs574119682	chr6:141362987-141362988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559596753	chr6:141362988-141362989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs562992410	chr6:141362993-141362994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs578110645	chr6:141362994-141362995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546031840	chr6:141363014-141363015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2328167	chr6:141363026-141363027	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs373168082	chr6:141363036-141363037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs546899976	chr6:141363048-141363049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548743656	chr6:141363075-141363076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561818089	chr6:141363095-141363096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528874545	chr6:141363104-141363105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs550129472	chr6:141363115-141363116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs568611719	chr6:141363130-141363131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs562102824	chr6:141363190-141363191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539103123	chr6:141363191-141363192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs551176556	chr6:141363219-141363220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs530842191	chr6:141363235-141363236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs534117618	chr6:141363265-141363266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs9495889	chr6:141363266-141363267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574362477	chr6:141363289-141363290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571031545	chr6:141363362-141363363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs533463575	chr6:141363391-141363392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564971095	chr6:141367414-141367415	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Gastric cancer	17908304	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
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
Primary central nervous system lymphoma	21088137	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141359000-141359800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:141362600-141363200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:141362600-141363200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:141362600-141363400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr6:141362600-141363400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:141362800-141363200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:141367400-141367800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:141367800-141372200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:141369600-141370000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:141370000-141370200	Enhancers	Right Atrium	heart
11	chr6:141370000-141371600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:141370000-141372200	Enhancers	Fetal Heart	heart
13	chr6:141370200-141370400	Enhancers	Fetal Lung	lung
14	chr6:141370200-141371800	Weak transcription	Right Atrium	heart
15	chr6:141370600-141370800	Enhancers	Ovary	ovary
16	chr6:141370800-141371800	Weak transcription	Ovary	ovary
17	chr6:141371600-141371800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:141371800-141372400	Enhancers	Right Atrium	heart
19	chr6:141371800-141373000	Enhancers	Ovary	ovary
20	chr6:141372000-141372400	Enhancers	Fetal Lung	lung
21	chr6:141372200-141372400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:141377800-141379200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:141378000-141379000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:141378200-141380200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:141378400-141378800	Enhancers	Fetal Heart	heart
26	chr6:141378400-141379200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:141378400-141379200	Enhancers	Right Atrium	heart
28	chr6:141378400-141379400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:141378400-141379800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:141378600-141379000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:141378600-141379200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:141378600-141379200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:141378600-141379600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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