Variant report

Variant	nsv886002
Chromosome Location	chr6:65245009-65307434
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:65277767..65280603-chr6:65309612..65311226,2	K562	blood:
2	chr6:65294576..65297046-chr6:65300065..65301851,2	K562	blood:
3	chr6:65287761..65289568-chr6:65291145..65293984,2	K562	blood:
4	chr6:65287761..65289568-chr6:65291145..65293984,2	K562	blood:
5	chr3:14919049..14919953-chr6:65270014..65270629,2	MCF-7	breast:
6	chr6:65294576..65297046-chr6:65300065..65301851,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-5	chr6:65303024-65303202	NONHSAT113363

No data

Extended variants
information (count: 625 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:625 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2050623	chr6:65245009-65245010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571854198	chr6:65245050-65245051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532803136	chr6:65245057-65245058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547625079	chr6:65245067-65245068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2050622	chr6:65245071-65245072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536375403	chr6:65245155-65245156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554629534	chr6:65245196-65245197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570099518	chr6:65245200-65245201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535748092	chr6:65257622-65257623	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530238412	chr6:65257628-65257629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190273102	chr6:65257633-65257634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575762930	chr6:65257641-65257642	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548855349	chr6:65257654-65257655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555174892	chr6:65257671-65257672	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182524100	chr6:65257674-65257675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368076508	chr6:65257676-65257677	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563735800	chr6:65257680-65257681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs530948516	chr6:65257684-65257685	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573779684	chr6:65257685-65257686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552557109	chr6:65257686-65257687	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541169721	chr6:65257690-65257691	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs6918550	chr6:65257691-65257692	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565912008	chr6:65257697-65257698	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs534024452	chr6:65257698-65257699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs186845471	chr6:65257734-65257735	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs137985346	chr6:65257735-65257736	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs36063388	chr6:65257773-65257774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191066279	chr6:65257781-65257782	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs568567634	chr6:65257782-65257783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539058344	chr6:65257783-65257784	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112547847	chr6:65257803-65257804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577510562	chr6:65257828-65257829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534983072	chr6:65257832-65257833	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs182436640	chr6:65257851-65257852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs371841844	chr6:65257870-65257871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542411881	chr6:65257871-65257872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563774433	chr6:65257884-65257885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189146788	chr6:65257885-65257886	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs546259962	chr6:65257910-65257911	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs144628018	chr6:65257923-65257924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532960400	chr6:65257924-65257925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528421419	chr6:65257929-65257930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs546593887	chr6:65257936-65257937	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs193060830	chr6:65257941-65257942	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs114492517	chr6:65257951-65257952	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs117015202	chr6:65257957-65257958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115065705	chr6:65257967-65257968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545260595	chr6:65257968-65257969	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566326811	chr6:65257972-65257973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs533745963	chr6:65257979-65257980	Active TSS	n/a	n/a	Overlapped CNVs	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
Ovarian cancer	19835627	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65243800-65245200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:65257600-65258000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:65262800-65263600	Enhancers	Fetal Heart	heart
4	chr6:65263200-65263600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:65278400-65278800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:65287600-65288600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:65288200-65288600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:65288600-65291600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:65288600-65291600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:65290200-65290800	Enhancers	NHEK	skin
11	chr6:65291600-65293400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:65291600-65293800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:65295800-65298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:65298400-65298600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:65298600-65299800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:65299800-65300400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:65299800-65300400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:65300000-65300400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:65301400-65301800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:65305400-65309400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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