Variant report

Variant	nsv526692
Chromosome Location	chr6:68912254-68938309
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68590833..68592511-chr6:68938075..68940408,2	K562	blood:
2	chr6:68855835..68858307-chr6:68920639..68923562,2	K562	blood:
3	chr6:68928154..68930694-chr6:68933230..68935835,2	K562	blood:
4	chr6:68589435..68592511-chr6:68936619..68941410,4	K562	blood:
5	chr6:68595627..68600174-chr6:68934474..68938541,5	K562	blood:
6	chr6:68642346..68643318-chr6:68935421..68936071,2	MCF-7	breast:
7	chr6:68805183..68807758-chr6:68934984..68937347,2	K562	blood:
8	chr6:68937776..68939599-chr6:68941195..68943265,2	K562	blood:
9	chr6:68587425..68594562-chr6:68930728..68938009,10	K562	blood:
10	chr6:68936509..68943149-chr6:68943386..68947943,7	K562	blood:
11	chr6:68928154..68930694-chr6:68933230..68935835,2	K562	blood:
12	chr6:68750041..68751555-chr6:68934848..68937816,2	K562	blood:
13	chr6:68933094..68935275-chr6:68937199..68939235,2	K562	blood:
14	chr6:68933094..68935275-chr6:68937199..68939235,2	K562	blood:
15	chr6:68932965..68935508-chr6:68943074..68945551,2	K562	blood:
16	chr6:68597558..68600174-chr6:68936484..68938846,3	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: 664 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1454726	chr6:68912254-68912255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537341460	chr6:68912272-68912273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142343219	chr6:68912339-68912340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527628375	chr6:68912340-68912341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143267321	chr6:68912351-68912352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148321929	chr6:68912423-68912424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181911427	chr6:68912430-68912431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62450874	chr6:68912437-68912438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572817296	chr6:68912451-68912452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542017229	chr6:68912464-68912465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150452654	chr6:68912488-68912489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138282214	chr6:68912508-68912509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143033834	chr6:68912509-68912510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568430153	chr6:68912530-68912531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532351728	chr6:68912551-68912552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552116636	chr6:68912588-68912589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146154931	chr6:68912591-68912592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528527716	chr6:68912619-68912620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373287022	chr6:68912668-68912669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563861140	chr6:68912746-68912747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528877922	chr6:68912761-68912762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1378449	chr6:68912777-68912778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189774426	chr6:68912791-68912792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376815102	chr6:68912834-68912835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137861834	chr6:68912852-68912853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372127685	chr6:68912894-68912895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73452725	chr6:68912911-68912912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540052745	chr6:68912947-68912948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73452727	chr6:68913001-68913002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552964799	chr6:68913004-68913005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113881119	chr6:68913020-68913021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77699311	chr6:68913027-68913028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs207467125	chr6:68913124-68913125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143907572	chr6:68913148-68913149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555579297	chr6:68913149-68913150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1902206	chr6:68913157-68913158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575332761	chr6:68913161-68913162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182729447	chr6:68913174-68913175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1902205	chr6:68913179-68913180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555802551	chr6:68913261-68913262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1902204	chr6:68913274-68913275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186444437	chr6:68913312-68913313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564053490	chr6:68913334-68913335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116131992	chr6:68913339-68913340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62450875	chr6:68913393-68913394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370947816	chr6:68913419-68913420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559315975	chr6:68913436-68913437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73452728	chr6:68913449-68913450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574163291	chr6:68913470-68913471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78223830	chr6:68913472-68913473	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68905400-68919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:68921000-68922000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:68929000-68931400	Weak transcription	Aorta	Aorta
4	chr6:68932600-68933000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:68932800-68933000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:68932800-68933000	Enhancers	K562	blood
7	chr6:68933000-68935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:68933000-68935200	Weak transcription	K562	blood
9	chr6:68933000-68936000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:68935000-68935800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:68935000-68936200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:68935200-68935400	Enhancers	K562	blood
13	chr6:68935200-68936000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:68935200-68936400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:68935400-68935800	Weak transcription	K562	blood
16	chr6:68935400-68936400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:68935600-68936400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:68935600-68936400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:68935800-68936200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:68935800-68936400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:68935800-68936800	Enhancers	K562	blood
22	chr6:68936000-68936400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:68936200-68936400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:68936400-68939400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:68936400-68939600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:68936400-68947200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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