Variant report

Variant	nsv1027683
Chromosome Location	chr6:82408186-82426855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 561 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7767298	chr6:82408186-82408187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59139758	chr6:82408274-82408275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1276905	chr6:82408286-82408287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528298170	chr6:82408302-82408303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566329745	chr6:82408350-82408351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375131679	chr6:82408390-82408391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs70984204	chr6:82408505-82408506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72298130	chr6:82408506-82408507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570966885	chr6:82408509-82408510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72310184	chr6:82408515-82408516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557031242	chr6:82408535-82408536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12174517	chr6:82408546-82408547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12174519	chr6:82408551-82408552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12176238	chr6:82408565-82408566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538414696	chr6:82408603-82408604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567639913	chr6:82408654-82408655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190742741	chr6:82408669-82408670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141739359	chr6:82408678-82408679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11969729	chr6:82408766-82408767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573912126	chr6:82408767-82408768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11964707	chr6:82408768-82408769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543309778	chr6:82408773-82408774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377652051	chr6:82408812-82408813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553674608	chr6:82408834-82408835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573492520	chr6:82408838-82408839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200916231	chr6:82408942-82408943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371098235	chr6:82408943-82408944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545650519	chr6:82408960-82408961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146280857	chr6:82408979-82408980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530675902	chr6:82409016-82409017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57020253	chr6:82409049-82409050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543960204	chr6:82409079-82409080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181791994	chr6:82409087-82409088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534219075	chr6:82409116-82409117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558717287	chr6:82409123-82409124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139392284	chr6:82409162-82409163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1144176	chr6:82409336-82409337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144130958	chr6:82409340-82409341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532253703	chr6:82409348-82409349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552002373	chr6:82409362-82409363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538191543	chr6:82409390-82409391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143883292	chr6:82409408-82409409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73478659	chr6:82409411-82409412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369873990	chr6:82409521-82409522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567673479	chr6:82409553-82409554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536217496	chr6:82409579-82409580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553387329	chr6:82409672-82409673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1144175	chr6:82409797-82409798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149120906	chr6:82409846-82409847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142118636	chr6:82409899-82409900	Weak transcription 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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82406600-82408400	Enhancers	Hela-S3	cervix
2	chr6:82407400-82408200	Weak transcription	Psoas Muscle	Psoas
3	chr6:82407400-82408600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:82407400-82410200	Weak transcription	Fetal Heart	heart
5	chr6:82407800-82410200	Weak transcription	HSMM	muscle
6	chr6:82407800-82411000	Weak transcription	Osteobl	bone
7	chr6:82408400-82409800	Weak transcription	Hela-S3	cervix
8	chr6:82409800-82411400	Enhancers	Hela-S3	cervix
9	chr6:82410000-82411200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:82410200-82410400	Enhancers	Fetal Heart	heart
11	chr6:82410200-82410400	Enhancers	HSMM	muscle
12	chr6:82410200-82411000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:82411000-82411400	Enhancers	Osteobl	bone
14	chr6:82413800-82417400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:82414600-82417000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:82414800-82415200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:82414800-82415400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:82414800-82415600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:82414800-82415800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:82415000-82415200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:82415000-82415200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:82415200-82417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:82415200-82417600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:82415200-82417600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:82415400-82417000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:82415600-82417600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:82415800-82416000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:82415800-82416000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:82415800-82417600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:82416000-82416600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:82416000-82417000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:82416600-82419800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:82417000-82417200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:82417000-82418800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:82417000-82420600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr6:82417200-82417400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:82417400-82418000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:82417400-82420400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:82417600-82417800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:82417600-82418000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:82417600-82418200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:82417600-82418400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:82417600-82418400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:82417600-82418400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:82417600-82418400	Enhancers	HSMM	muscle
46	chr6:82417600-82418600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:82417600-82418600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:82417600-82418600	Enhancers	NH-A	brain
49	chr6:82417600-82418800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:82417600-82418800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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