Variant report

Variant	esv3473557
Chromosome Location	chr6:149320583-149321059
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	chr6:149320919..149324132-chr6:149326009..149328937,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115588546	chr6:149320585-149320586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188949835	chr6:149320610-149320611	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552704563	chr6:149320646-149320647	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2486397	chr6:149320682-149320683	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543683642	chr6:149320688-149320689	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542174080	chr6:149320690-149320691	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193106046	chr6:149320691-149320692	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575459644	chr6:149320702-149320703	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544396990	chr6:149320713-149320714	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78380629	chr6:149320729-149320730	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368071658	chr6:149320768-149320769	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563363102	chr6:149320790-149320791	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145649687	chr6:149320809-149320810	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533273875	chr6:149320810-149320811	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114890001	chr6:149320843-149320844	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs560305089	chr6:149320900-149320901	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs184256373	chr6:149320986-149320987	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs147731276	chr6:149320990-149320991	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs61552517	chr6:149321043-149321044	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562903972	chr6:149321046-149321047	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs117842457	chr6:149321048-149321049	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	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
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
Follicular lymphoma	20505157	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
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149286800-149320600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:149292800-149321200	Weak transcription	Aorta	Aorta
3	chr6:149305400-149381400	Weak transcription	Gastric	stomach
4	chr6:149308200-149320600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:149310200-149335200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:149311000-149321000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:149311000-149321200	Weak transcription	Pancreas	Pancrea
8	chr6:149311000-149335200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:149312600-149321000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:149314400-149321200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:149314800-149327400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:149315000-149320800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:149315000-149322200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:149317000-149321800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:149317200-149320600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:149317200-149320800	Weak transcription	Fetal Stomach	stomach
17	chr6:149317200-149321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:149317200-149321200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:149317200-149321200	Weak transcription	Esophagus	oesophagus
20	chr6:149317200-149321400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:149317200-149321800	Enhancers	Osteobl	bone
22	chr6:149317600-149320600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:149317600-149321600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:149317600-149321800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:149317600-149321800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:149317600-149322000	Enhancers	HSMM	muscle
27	chr6:149317800-149322200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:149318000-149320600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:149318000-149320800	Weak transcription	Primary B cells from cord blood	blood
30	chr6:149318400-149322400	Enhancers	Dnd41	blood
31	chr6:149319000-149320600	Enhancers	Fetal Heart	heart
32	chr6:149319000-149320800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:149319000-149321800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:149319000-149321800	Enhancers	Ovary	ovary
35	chr6:149319000-149321800	Enhancers	NH-A	brain
36	chr6:149319200-149320600	Enhancers	NHDF-Ad	bronchial
37	chr6:149319200-149321600	Enhancers	Adipose Nuclei	Adipose
38	chr6:149319400-149321800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr6:149319400-149321800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:149319400-149321800	Enhancers	HSMMtube	muscle
41	chr6:149319600-149321400	Enhancers	Brain Hippocampus Middle	brain
42	chr6:149319600-149321400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:149319600-149321800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:149319800-149321600	Enhancers	HMEC	breast
45	chr6:149319800-149321800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr6:149320000-149320800	Weak transcription	Right Atrium	heart
47	chr6:149320000-149321000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:149320000-149321400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:149320000-149321600	Enhancers	Psoas Muscle	Psoas
50	chr6:149320000-149321600	Enhancers	Hela-S3	cervix

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