Variant report

Variant	nsv1021359
Chromosome Location	chr6:81763673-81819933
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:

Extended variants
information (count: 1238 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1238 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188353725	chr6:81763694-81763695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9344092	chr6:81763771-81763772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565871611	chr6:81763778-81763779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199724324	chr6:81764002-81764003	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs137870033	chr6:81764017-81764018	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537313442	chr6:81764044-81764045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556609945	chr6:81764109-81764110	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570023794	chr6:81764116-81764117	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181840822	chr6:81764157-81764158	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs368243839	chr6:81764167-81764168	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555574533	chr6:81764198-81764199	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141617824	chr6:81764199-81764200	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555430578	chr6:81764217-81764218	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs150545128	chr6:81764309-81764310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs577941125	chr6:81764310-81764311	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537193144	chr6:81764323-81764324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543674847	chr6:81764337-81764338	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs564102997	chr6:81764423-81764424	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs9294199	chr6:81764426-81764427	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565585389	chr6:81764447-81764448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs542746471	chr6:81764532-81764533	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs6910354	chr6:81764565-81764566	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528316679	chr6:81764576-81764577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184937481	chr6:81764584-81764585	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534750580	chr6:81770019-81770020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534889769	chr6:81770036-81770037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374833281	chr6:81770061-81770062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185140046	chr6:81770103-81770104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571273000	chr6:81770142-81770143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190070054	chr6:81770146-81770147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539667784	chr6:81770204-81770205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542539597	chr6:81770220-81770221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558298534	chr6:81770247-81770248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181038377	chr6:81770250-81770251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140858819	chr6:81770320-81770321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576698402	chr6:81770350-81770351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116431704	chr6:81770375-81770376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368987164	chr6:81770420-81770421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185507439	chr6:81770422-81770423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75106987	chr6:81770437-81770438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150089997	chr6:81770461-81770462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543544950	chr6:81770505-81770506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562192199	chr6:81770522-81770523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563224208	chr6:81770531-81770532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529116036	chr6:81770540-81770541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188120083	chr6:81770575-81770576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533288619	chr6:81770580-81770581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565835309	chr6:81770678-81770679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138361781	chr6:81770728-81770729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551695625	chr6:81770740-81770741	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81763600-81763800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:81764000-81764600	Active TSS	NHDF-Ad	bronchial
3	chr6:81770000-81770400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:81770000-81770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:81770800-81774000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:81773400-81774000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr6:81773400-81774000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:81773800-81774000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:81773800-81774000	ZNF genes & repeats	Aorta	Aorta
10	chr6:81773800-81774600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr6:81774000-81774400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:81774000-81781000	Weak transcription	Aorta	Aorta
13	chr6:81774400-81778000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:81778000-81779200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:81778200-81779200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:81780800-81781600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:81781000-81781200	Enhancers	Aorta	Aorta
18	chr6:81785400-81785800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:81785400-81786200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:81785600-81785800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:81785600-81785800	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:81785600-81786000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:81785600-81786200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:81785600-81786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:81785600-81786200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:81785600-81786200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:81785600-81786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:81785600-81786200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:81786200-81800200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:81794600-81795000	Enhancers	Fetal Heart	heart
31	chr6:81794600-81795200	Enhancers	Fetal Lung	lung
32	chr6:81795200-81796800	Weak transcription	Fetal Lung	lung
33	chr6:81796200-81797000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:81796200-81797600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:81796400-81797600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:81796800-81797400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:81796800-81797400	Enhancers	Fetal Lung	lung
38	chr6:81796800-81797600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:81797000-81797200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:81797000-81797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:81797000-81797800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:81797200-81797400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:81797200-81797600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr6:81797200-81797600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr6:81797200-81797600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:81797200-81797600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:81797200-81797600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:81797200-81797600	Enhancers	Adipose Nuclei	Adipose
49	chr6:81797200-81797600	Enhancers	Fetal Stomach	stomach
50	chr6:81797200-81797600	Enhancers	Psoas Muscle	Psoas

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