Variant report

Variant	esv3392016
Chromosome Location	chr6:75927511-75927923
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	chr6:75921545..75925190-chr6:75927734..75930385,3	K562	blood:
2	chr6:75920298..75925190-chr6:75927139..75929991,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181426693	chr6:75927528-75927529	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs118070252	chr6:75927574-75927575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184903178	chr6:75927606-75927607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190143839	chr6:75927611-75927612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529323577	chr6:75927617-75927618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181890176	chr6:75927650-75927651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187346281	chr6:75927686-75927687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533566282	chr6:75927757-75927758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs171261	chr6:75927768-75927769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567920979	chr6:75927777-75927778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536697377	chr6:75927790-75927791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75409086	chr6:75927812-75927813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs171262	chr6:75927834-75927835	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550094322	chr6:75927871-75927872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534348663	chr6:75927910-75927911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75917600-75946600	Weak transcription	Lung	lung
2	chr6:75922600-75947000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:75922800-75927800	Weak transcription	Right Atrium	heart
4	chr6:75922800-75933200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:75923200-75932800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:75923600-75927600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:75923800-75933000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:75924200-75932800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:75925000-75932400	Weak transcription	Aorta	Aorta
10	chr6:75925200-75930400	Weak transcription	Liver	Liver
11	chr6:75926400-75928400	Enhancers	NHDF-Ad	bronchial
12	chr6:75926600-75927600	Enhancers	Colon Smooth Muscle	Colon
13	chr6:75926600-75927600	Enhancers	Stomach Mucosa	stomach
14	chr6:75926600-75927600	Enhancers	Osteobl	bone
15	chr6:75926600-75927800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:75926600-75927800	Enhancers	Adipose Nuclei	Adipose
17	chr6:75926600-75928000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:75926600-75928400	Enhancers	Fetal Lung	lung
19	chr6:75926600-75930600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:75926800-75927600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:75926800-75927800	Weak transcription	Left Ventricle	heart
22	chr6:75926800-75928000	Enhancers	Rectal Smooth Muscle	rectum
23	chr6:75926800-75928000	Enhancers	NHLF	lung
24	chr6:75927000-75927600	Enhancers	HSMMtube	muscle
25	chr6:75927000-75928000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:75927000-75928000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:75927000-75928200	Enhancers	Ovary	ovary
28	chr6:75927200-75927600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:75927200-75927800	Enhancers	Fetal Heart	heart
30	chr6:75927200-75929000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:75927400-75927600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:75927400-75933000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:75927400-75940200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:75927600-75928000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:75927600-75929600	Weak transcription	Stomach Mucosa	stomach
36	chr6:75927600-75930800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:75927600-75932800	Weak transcription	HSMMtube	muscle
38	chr6:75927600-75932800	Weak transcription	Osteobl	bone
39	chr6:75927800-75928000	Enhancers	Right Atrium	heart
40	chr6:75927800-75928200	Enhancers	Left Ventricle	heart
41	chr6:75927800-75931600	Weak transcription	Adipose Nuclei	Adipose
42	chr6:75927800-75933200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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