Variant report

Variant	nsv528362
Chromosome Location	chr6:68435871-68486914
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68462396..68466041-chr6:68466528..68469791,3	K562	blood:
2	chr6:68468665..68470415-chr6:68479516..68482375,2	K562	blood:
3	chr6:68468665..68470415-chr6:68479516..68482375,2	K562	blood:
4	chr6:68443772..68446590-chr6:68448877..68451685,2	K562	blood:
5	chr6:68474050..68477603-chr6:68477987..68481282,3	K562	blood:
6	chr6:68483403..68485670-chr6:68597491..68600005,2	K562	blood:
7	chr6:68462396..68466041-chr6:68466528..68469791,3	K562	blood:
8	chr6:68474050..68477603-chr6:68477987..68481282,3	K562	blood:
9	chr6:68443772..68446590-chr6:68448877..68451685,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227706	chromatin interactions

Extended variants
information (count: 255 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563468342	chr6:68443806-68443807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186787805	chr6:68443808-68443809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536419342	chr6:68443820-68443821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188880175	chr6:68443821-68443822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566233026	chr6:68443832-68443833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181984186	chr6:68443835-68443836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548924675	chr6:68443848-68443849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569070550	chr6:68443860-68443861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558133349	chr6:68443875-68443876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577267506	chr6:68443883-68443884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539842575	chr6:68443909-68443910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553473131	chr6:68443914-68443915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144850772	chr6:68443964-68443965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148579891	chr6:68443991-68443992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186322298	chr6:68444053-68444054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575839455	chr6:68444061-68444062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116718092	chr6:68444149-68444150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564450105	chr6:68444150-68444151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13200676	chr6:68444163-68444164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9363801	chr6:68444180-68444181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559782500	chr6:68444186-68444187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368844510	chr6:68444191-68444192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142941030	chr6:68444195-68444196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372192870	chr6:68444224-68444225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568956667	chr6:68444226-68444227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531541443	chr6:68444258-68444259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528155058	chr6:68444295-68444296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551653208	chr6:68444315-68444316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190971582	chr6:68444396-68444397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534090936	chr6:68446224-68446225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547951601	chr6:68446230-68446231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199669341	chr6:68446234-68446235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138130841	chr6:68446235-68446236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397821491	chr6:68446238-68446239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567788057	chr6:68446242-68446243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536948070	chr6:68446246-68446247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556624604	chr6:68446247-68446248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192710714	chr6:68446249-68446250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540298979	chr6:68446266-68446267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543491150	chr6:68446300-68446301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558658774	chr6:68446316-68446317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564867360	chr6:68446376-68446377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374073743	chr6:68446462-68446463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149110094	chr6:68446508-68446509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540803053	chr6:68446534-68446535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554728258	chr6:68446572-68446573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184048388	chr6:68446585-68446586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143155275	chr6:68446600-68446601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563253651	chr6:68446622-68446623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62412283	chr6:68446666-68446667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68443800-68444400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:68446200-68447400	Enhancers	HUVEC	blood vessel
3	chr6:68468600-68469000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:68468800-68469200	Active TSS	Fetal Heart	heart
5	chr6:68475600-68477000	Enhancers	HUVEC	blood vessel

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