Variant report

Variant	nsv970692
Chromosome Location	chr6:92029835-92050275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:92024328..92026291-chr6:92028411..92031026,2	MCF-7	breast:
2	chr6:92039625..92040672-chr6:92243858..92245014,7	MCF-7	breast:
3	chr6:92039721..92040294-chr6:93354118..93354772,2	MCF-7	breast:
4	chr6:92039620..92040133-chr6:92244085..92244800,2	MCF-7	breast:
5	chr6:92025048..92027862-chr6:92036199..92038247,2	K562	blood:

Variant related genes	Relation type
ENSG00000265419	chromatin interactions

Extended variants
information (count: 395 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544398544	chr6:92039765-92039766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540169533	chr6:92039907-92039908	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182929430	chr6:92039941-92039942	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187604977	chr6:92039951-92039952	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190217283	chr6:92039998-92039999	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560573069	chr6:92039999-92040000	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560063562	chr6:92040012-92040013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144353407	chr6:92040035-92040036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549403172	chr6:92040038-92040039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562222818	chr6:92040209-92040210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4361591	chr6:92040304-92040305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182848049	chr6:92040357-92040358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563016074	chr6:92040404-92040405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71540008	chr6:92040426-92040427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71932830	chr6:92040427-92040428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61367674	chr6:92040460-92040461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4053577	chr6:92040461-92040462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3223215	chr6:92040465-92040466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59265180	chr6:92040467-92040468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187194311	chr6:92040489-92040490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192569400	chr6:92040520-92040521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529538512	chr6:92040531-92040532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374113289	chr6:92040558-92040559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551671583	chr6:92040617-92040618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571477932	chr6:92040650-92040651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534128814	chr6:92040818-92040819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552184507	chr6:92040819-92040820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547360169	chr6:92040821-92040822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568601679	chr6:92040874-92040875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146638668	chr6:92040892-92040893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566834238	chr6:92040977-92040978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4481406	chr6:92040986-92040987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113237900	chr6:92040999-92041000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184412247	chr6:92041015-92041016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188943982	chr6:92041061-92041062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79488225	chr6:92041081-92041082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193129757	chr6:92041160-92041161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184283515	chr6:92041211-92041212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368886627	chr6:92041227-92041228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35884704	chr6:92041293-92041294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539039786	chr6:92041301-92041302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2655651	chr6:92041341-92041342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542638518	chr6:92041479-92041480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143218492	chr6:92041481-92041482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374114637	chr6:92041495-92041496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551611351	chr6:92041505-92041506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151138092	chr6:92041518-92041519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568332694	chr6:92041563-92041564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534478802	chr6:92041580-92041581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2180126	chr6:92041607-92041608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92039800-92040000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr6:92040000-92040600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:92040600-92041000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:92040600-92041200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:92040800-92041200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:92040800-92041400	Enhancers	Fetal Lung	lung
7	chr6:92040800-92041400	Enhancers	Fetal Muscle Leg	muscle
8	chr6:92041200-92050600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:92045400-92046400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:92048000-92050600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:92049000-92049200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:92049200-92049400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr6:92049400-92050600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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