Variant report

Variant	nsv526266
Chromosome Location	chr6:68930628-68938309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68936509..68943149-chr6:68943386..68947943,7	K562	blood:
2	chr6:68597558..68600174-chr6:68936484..68938846,3	K562	blood:
3	chr6:68937776..68939599-chr6:68941195..68943265,2	K562	blood:
4	chr6:68932965..68935508-chr6:68943074..68945551,2	K562	blood:
5	chr6:68928154..68930694-chr6:68933230..68935835,2	K562	blood:
6	chr6:68933094..68935275-chr6:68937199..68939235,2	K562	blood:
7	chr6:68933094..68935275-chr6:68937199..68939235,2	K562	blood:
8	chr6:68928154..68930694-chr6:68933230..68935835,2	K562	blood:
9	chr6:68587425..68594562-chr6:68930728..68938009,10	K562	blood:
10	chr6:68590833..68592511-chr6:68938075..68940408,2	K562	blood:
11	chr6:68595627..68600174-chr6:68934474..68938541,5	K562	blood:
12	chr6:68589435..68592511-chr6:68936619..68941410,4	K562	blood:
13	chr6:68805183..68807758-chr6:68934984..68937347,2	K562	blood:
14	chr6:68642346..68643318-chr6:68935421..68936071,2	MCF-7	breast:
15	chr6:68750041..68751555-chr6:68934848..68937816,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL713998.1-1	chr6:68936864-68937184	XLOC_005757

No data

Variant related genes	Relation type
ENSG00000227706	chromatin interactions
DIP2C	miRNA target sites

Extended variants
information (count: 235 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9360322	chr6:68930628-68930629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575921790	chr6:68930646-68930647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184671096	chr6:68930659-68930660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557992968	chr6:68930670-68930671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188570141	chr6:68930696-68930697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199840089	chr6:68930710-68930711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368774119	chr6:68930713-68930714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192221083	chr6:68930731-68930732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9445980	chr6:68930738-68930739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573652875	chr6:68930782-68930783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374108209	chr6:68930799-68930800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531336652	chr6:68930821-68930822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115194907	chr6:68930855-68930856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549643211	chr6:68930877-68930878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140951362	chr6:68930901-68930902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184384029	chr6:68930978-68930979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565130692	chr6:68930995-68930996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144753214	chr6:68931033-68931034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146735850	chr6:68931095-68931096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111489333	chr6:68931120-68931121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375987694	chr6:68931134-68931135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567015943	chr6:68931138-68931139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535554696	chr6:68931148-68931149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546000351	chr6:68931149-68931150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370337912	chr6:68931215-68931216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75404822	chr6:68931218-68931219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140375445	chr6:68931280-68931281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569366423	chr6:68931356-68931357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555994742	chr6:68932621-68932622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576078554	chr6:68932681-68932682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541862230	chr6:68932698-68932699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374555413	chr6:68932710-68932711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558761288	chr6:68932810-68932811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572402814	chr6:68932817-68932818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541352646	chr6:68932833-68932834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561208601	chr6:68932880-68932881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529272615	chr6:68932889-68932890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542965074	chr6:68932895-68932896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185548933	chr6:68932916-68932917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553513414	chr6:68932955-68932956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551594997	chr6:68932970-68932971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571524505	chr6:68932983-68932984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527853877	chr6:68932990-68932991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547780870	chr6:68933020-68933021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567908134	chr6:68933035-68933036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9342692	chr6:68933042-68933043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569796672	chr6:68933060-68933061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538719893	chr6:68933096-68933097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189960318	chr6:68933117-68933118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572291044	chr6:68933136-68933137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68929000-68931400	Weak transcription	Aorta	Aorta
2	chr6:68932600-68933000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:68932800-68933000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:68932800-68933000	Enhancers	K562	blood
5	chr6:68933000-68935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:68933000-68935200	Weak transcription	K562	blood
7	chr6:68933000-68936000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:68935000-68935800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:68935000-68936200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:68935200-68935400	Enhancers	K562	blood
11	chr6:68935200-68936000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:68935200-68936400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:68935400-68935800	Weak transcription	K562	blood
14	chr6:68935400-68936400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:68935600-68936400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:68935600-68936400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:68935800-68936200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:68935800-68936400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:68935800-68936800	Enhancers	K562	blood
20	chr6:68936000-68936400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:68936200-68936400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:68936400-68939400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:68936400-68939600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:68936400-68947200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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