Variant report

Variant	nsv442004
Chromosome Location	chr6:82147124-82171606
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	chr22:31795756..31797975-chr6:82164220..82166358,2	MCF-7	breast:

Extended variants
information (count: 606 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189778031	chr6:82150401-82150402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370581788	chr6:82150410-82150411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72907079	chr6:82150417-82150418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144624182	chr6:82150430-82150431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72907081	chr6:82150434-82150435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374768327	chr6:82150440-82150441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553894678	chr6:82150459-82150460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576898240	chr6:82150469-82150470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114951494	chr6:82150470-82150471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183150233	chr6:82150482-82150483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1857304	chr6:82150485-82150486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576004808	chr6:82150500-82150501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555120168	chr6:82150517-82150518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187867883	chr6:82150519-82150520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547089907	chr6:82150538-82150539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541681605	chr6:82150540-82150541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561653626	chr6:82150573-82150574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192031288	chr6:82150592-82150593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111488168	chr6:82150598-82150599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560201012	chr6:82150604-82150605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148966318	chr6:82150625-82150626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568919157	chr6:82150641-82150642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562696898	chr6:82150655-82150656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs36091569	chr6:82150670-82150671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370710041	chr6:82150701-82150702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535980286	chr6:82150715-82150716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35478634	chr6:82150739-82150740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183829509	chr6:82150744-82150745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543921942	chr6:82150746-82150747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568811185	chr6:82150747-82150748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572507185	chr6:82150774-82150775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187978779	chr6:82150780-82150781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541285852	chr6:82150794-82150795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368730460	chr6:82150795-82150796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56347700	chr6:82150796-82150797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192824515	chr6:82150798-82150799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143701560	chr6:82150823-82150824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575901697	chr6:82150863-82150864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537533	chr6:82150876-82150877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555235189	chr6:82150904-82150905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572045522	chr6:82150934-82150935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140352656	chr6:82150943-82150944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564089687	chr6:82150959-82150960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184822154	chr6:82150962-82150963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545929151	chr6:82150975-82150976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138131056	chr6:82151086-82151087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531727476	chr6:82151121-82151122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189311900	chr6:82151125-82151126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562345923	chr6:82151126-82151127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527961188	chr6:82151131-82151132	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
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
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
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82150400-82153000	Enhancers	Placenta	Placenta
2	chr6:82152800-82153200	Enhancers	Stomach Mucosa	stomach
3	chr6:82153200-82154800	Weak transcription	Stomach Mucosa	stomach
4	chr6:82154800-82157800	Enhancers	Stomach Mucosa	stomach
5	chr6:82155000-82156400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:82156400-82156800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:82156800-82157000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:82157000-82159600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:82157800-82160000	Weak transcription	Stomach Mucosa	stomach
10	chr6:82159000-82159400	Enhancers	Hela-S3	cervix
11	chr6:82159200-82162400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:82159400-82159800	Weak transcription	Hela-S3	cervix
13	chr6:82159400-82162000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:82159600-82160800	Enhancers	Osteobl	bone
15	chr6:82159600-82162000	Enhancers	NHDF-Ad	bronchial
16	chr6:82159600-82162200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:82159800-82160400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:82159800-82162400	Enhancers	Hela-S3	cervix
19	chr6:82160000-82160200	Enhancers	Stomach Mucosa	stomach
20	chr6:82160000-82160400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:82160000-82160400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:82160000-82160400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:82160000-82160400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:82160000-82160400	Enhancers	NHLF	lung
25	chr6:82160000-82160600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:82160000-82161600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:82160000-82161600	Enhancers	Left Ventricle	heart
28	chr6:82160000-82162000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:82160200-82160400	Enhancers	Fetal Heart	heart
30	chr6:82160200-82160400	Enhancers	NH-A	brain
31	chr6:82160200-82160600	Weak transcription	Stomach Mucosa	stomach
32	chr6:82160400-82161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:82160400-82161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:82160400-82161400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:82160400-82161400	Weak transcription	NH-A	brain
36	chr6:82160400-82161400	Weak transcription	NHLF	lung
37	chr6:82160400-82161600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:82160600-82162200	Enhancers	Stomach Mucosa	stomach
39	chr6:82160800-82161200	Weak transcription	Osteobl	bone
40	chr6:82160800-82161800	Weak transcription	Fetal Heart	heart
41	chr6:82160800-82163000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:82161200-82161800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:82161200-82162000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:82161200-82162200	Enhancers	Osteobl	bone
45	chr6:82161400-82161600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:82161400-82161600	Enhancers	NHLF	lung
47	chr6:82161400-82161800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:82161400-82161800	Enhancers	HUVEC	blood vessel
49	chr6:82161400-82162000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr6:82161400-82162000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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