Variant report

Variant	nsv932992
Chromosome Location	chr6:76558234-76558602
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	chr6:76459743..76462264-chr6:76558072..76560658,3	MCF-7	breast:
2	chr6:76527031..76529550-chr6:76557950..76559452,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196586	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548368048	chr6:76558260-76558261	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552038286	chr6:76558349-76558350	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9350601	chr6:76558358-76558359	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575258078	chr6:76558361-76558362	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535825723	chr6:76558367-76558368	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9359141	chr6:76558380-76558381	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553361826	chr6:76558391-76558392	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6905578	chr6:76558406-76558407	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184906346	chr6:76558407-76558408	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564087408	chr6:76558424-76558425	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11343853	chr6:76558432-76558433	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576178126	chr6:76558459-76558460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6453843	chr6:76558485-76558486	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550475455	chr6:76558554-76558555	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77381325	chr6:76558564-76558565	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79968750	chr6:76558568-76558569	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76520200-76576400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:76521800-76571000	Weak transcription	Gastric	stomach
3	chr6:76522000-76558800	Weak transcription	Ovary	ovary
4	chr6:76522600-76559000	Weak transcription	Fetal Kidney	kidney
5	chr6:76523800-76569000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:76527200-76558800	Weak transcription	Small Intestine	intestine
7	chr6:76533200-76559400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:76534200-76572400	Weak transcription	Brain Anterior Caudate	brain
9	chr6:76538200-76559200	Weak transcription	Pancreas	Pancrea
10	chr6:76539400-76572400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:76541000-76590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:76541200-76572600	Weak transcription	HSMMtube	muscle
13	chr6:76541400-76558400	Weak transcription	Stomach Mucosa	stomach
14	chr6:76541400-76559200	Weak transcription	Osteobl	bone
15	chr6:76541400-76572400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:76541600-76558800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:76541600-76559400	Weak transcription	NH-A	brain
18	chr6:76541800-76558600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:76543000-76558800	Weak transcription	Left Ventricle	heart
20	chr6:76543000-76568800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:76543000-76569200	Weak transcription	Lung	lung
22	chr6:76543000-76615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:76543200-76566600	Weak transcription	HMEC	breast
24	chr6:76543800-76559400	Weak transcription	NHDF-Ad	bronchial
25	chr6:76544000-76583200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:76544200-76572600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:76544400-76558800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:76544400-76559200	Weak transcription	Fetal Stomach	stomach
29	chr6:76544400-76572600	Weak transcription	Aorta	Aorta
30	chr6:76544400-76572600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:76544400-76603800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:76545800-76566800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:76547400-76562400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:76547400-76572600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:76551000-76565600	Weak transcription	Liver	Liver
36	chr6:76551200-76558800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:76551200-76566800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:76551200-76567200	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:76551200-76572600	Weak transcription	Placenta	Placenta
40	chr6:76551400-76559000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:76552000-76558800	Weak transcription	NHEK	skin
42	chr6:76552000-76566800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:76552000-76571200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:76552200-76560000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:76552200-76562000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:76552200-76562000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:76552200-76567400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:76552200-76569000	Weak transcription	Adipose Nuclei	Adipose
49	chr6:76552200-76572400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:76552200-76592400	Weak transcription	HSMM	muscle

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