Variant report

Variant	nsv463936
Chromosome Location	chr6:81784903-81893325
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	chr6:81314911..81315522-chr6:81785483..81786072,2	MCF-7	breast:
2	chr21:46338970..46339822-chr6:81843315..81843996,2	MCF-7	breast:

Extended variants
information (count: 1583 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569944580	chr6:81785406-81785407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544772315	chr6:81785463-81785464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549275861	chr6:81785473-81785474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9344095	chr6:81785477-81785478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189730066	chr6:81785544-81785545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549568462	chr6:81785563-81785564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571144591	chr6:81785670-81785671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181453311	chr6:81785716-81785717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557068989	chr6:81785765-81785766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559661721	chr6:81785781-81785782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536476258	chr6:81785786-81785787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs768440	chr6:81785804-81785805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs202156335	chr6:81785818-81785819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567910092	chr6:81785819-81785820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573103943	chr6:81785825-81785826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373763790	chr6:81785882-81785883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140610932	chr6:81785884-81785885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564552465	chr6:81785897-81785898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577593105	chr6:81785906-81785907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184973610	chr6:81785940-81785941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563457157	chr6:81785972-81785973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112796914	chr6:81785989-81785990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12660490	chr6:81786035-81786036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142063088	chr6:81786054-81786055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549556361	chr6:81786068-81786069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559649645	chr6:81786073-81786074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112946297	chr6:81786076-81786077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189730997	chr6:81786080-81786081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151132479	chr6:81786102-81786103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571288748	chr6:81786141-81786142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537026587	chr6:81786142-81786143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576703046	chr6:81786191-81786192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201446087	chr6:81786222-81786223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368713682	chr6:81786223-81786224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143545310	chr6:81786338-81786339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113373436	chr6:81786384-81786385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183100533	chr6:81786426-81786427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536313501	chr6:81786439-81786440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370905179	chr6:81786447-81786448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186434175	chr6:81786486-81786487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191850641	chr6:81786488-81786489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374343435	chr6:81786498-81786499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80189422	chr6:81786502-81786503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201274204	chr6:81786521-81786522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528174936	chr6:81786526-81786527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9449234	chr6:81786684-81786685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558558030	chr6:81786752-81786753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146446698	chr6:81786777-81786778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543432316	chr6:81786813-81786814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141367016	chr6:81786821-81786822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81785400-81785800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:81785400-81786200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:81785600-81785800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:81785600-81785800	Enhancers	Brain Cingulate Gyrus	brain
5	chr6:81785600-81786000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:81785600-81786200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:81785600-81786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:81785600-81786200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:81785600-81786200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:81785600-81786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:81785600-81786200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:81786200-81800200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:81794600-81795000	Enhancers	Fetal Heart	heart
14	chr6:81794600-81795200	Enhancers	Fetal Lung	lung
15	chr6:81795200-81796800	Weak transcription	Fetal Lung	lung
16	chr6:81796200-81797000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:81796200-81797600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:81796400-81797600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:81796800-81797400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:81796800-81797400	Enhancers	Fetal Lung	lung
21	chr6:81796800-81797600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:81797000-81797200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:81797000-81797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:81797000-81797800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:81797200-81797400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:81797200-81797600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr6:81797200-81797600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:81797200-81797600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:81797200-81797600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:81797200-81797600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:81797200-81797600	Enhancers	Adipose Nuclei	Adipose
32	chr6:81797200-81797600	Enhancers	Fetal Stomach	stomach
33	chr6:81797200-81797600	Enhancers	Psoas Muscle	Psoas
34	chr6:81797400-81797600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:81797400-81802800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:81797600-81802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:81797600-81803000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:81797600-81803000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:81797800-81798200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:81797800-81802800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:81802600-81804200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:81802800-81803400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr6:81802800-81803600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr6:81803000-81803600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:81803000-81803800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr6:81803000-81803800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:81813200-81813400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:81813400-81814200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:81814200-81814600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:81835800-81836000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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