Variant report

Variant	esv2065068
Chromosome Location	chr6:142525603-142526030
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	chr6:142510733..142514047-chr6:142522766..142526301,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144699470	chr6:142525672-142525673	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530417868	chr6:142525688-142525689	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs148088789	chr6:142525697-142525698	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112409652	chr6:142525731-142525732	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs528743265	chr6:142525739-142525740	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182475141	chr6:142525751-142525752	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs115232264	chr6:142525756-142525757	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs539468276	chr6:142525758-142525759	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146765784	chr6:142525781-142525782	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557479647	chr6:142525795-142525796	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs570403993	chr6:142525804-142525805	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs374864300	chr6:142525811-142525812	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201424724	chr6:142525812-142525813	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149696546	chr6:142525815-142525816	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201924259	chr6:142525826-142525827	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs199910247	chr6:142525827-142525828	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200989005	chr6:142525830-142525831	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs558155995	chr6:142525840-142525841	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556111348	chr6:142525877-142525878	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs111436392	chr6:142525886-142525887	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs225689	chr6:142525891-142525892	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553161574	chr6:142525922-142525923	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187113887	chr6:142525928-142525929	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs6905764	chr6:142525947-142525948	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs6926114	chr6:142525948-142525949	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541566604	chr6:142525954-142525955	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs563055071	chr6:142525980-142525981	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142484200-142533800	Weak transcription	Aorta	Aorta
2	chr6:142489000-142543200	Weak transcription	Small Intestine	intestine
3	chr6:142495600-142533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:142496000-142528600	Weak transcription	Lung	lung
5	chr6:142496200-142527600	Weak transcription	Thymus	Thymus
6	chr6:142496200-142528200	Weak transcription	Fetal Stomach	stomach
7	chr6:142496200-142528400	Weak transcription	Brain Germinal Matrix	brain
8	chr6:142496200-142533800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:142496200-142533800	Weak transcription	Gastric	stomach
10	chr6:142496200-142533800	Weak transcription	Pancreas	Pancrea
11	chr6:142496400-142528000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:142496400-142533600	Weak transcription	Colonic Mucosa	Colon
13	chr6:142496600-142525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:142496600-142526200	Weak transcription	Esophagus	oesophagus
15	chr6:142496600-142533800	Weak transcription	Left Ventricle	heart
16	chr6:142496600-142546800	Weak transcription	NHLF	lung
17	chr6:142498200-142526000	Weak transcription	Fetal Intestine Small	intestine
18	chr6:142498600-142527800	Weak transcription	Ovary	ovary
19	chr6:142502000-142527800	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:142507800-142533800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:142509200-142526000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:142510400-142534000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:142510400-142534200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:142510800-142534600	Weak transcription	Hela-S3	cervix
25	chr6:142513200-142528400	Weak transcription	Brain Substantia Nigra	brain
26	chr6:142513400-142533600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:142513600-142527400	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:142513600-142527800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:142515400-142541800	Weak transcription	Psoas Muscle	Psoas
30	chr6:142517200-142535400	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:142517400-142533400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:142517400-142533800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:142517600-142526200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:142517600-142527000	Weak transcription	A549	lung
35	chr6:142517600-142528200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr6:142517600-142533200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:142517800-142526000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:142517800-142527800	Weak transcription	NHEK	skin
39	chr6:142517800-142533000	Weak transcription	NH-A	brain
40	chr6:142517800-142533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:142517800-142533600	Weak transcription	Right Ventricle	heart
42	chr6:142518000-142533800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:142518000-142534400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:142518000-142534400	Weak transcription	Spleen	Spleen
45	chr6:142518200-142527400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:142518200-142533000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:142518800-142528600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:142518800-142530200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr6:142518800-142533800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:142519000-142534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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