Variant report

Variant	nsv1017529
Chromosome Location	chr6:82411355-82442277
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:5)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:82438195..82440770-chr6:82460105..82462443,2	MCF-7	breast:
2	chr6:82330805..82333324-chr6:82432561..82435338,2	K562	blood:
3	chr6:82436894..82439027-chr6:82439633..82441161,2	MCF-7	breast:
4	chr12:75784815..75785542-chr6:82429940..82430440,2	MCF-7	breast:
5	chr6:82436894..82439027-chr6:82439633..82441161,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IBTK-2	chr6:82441203-82441289	ENSG00000232031.1
2	lnc-IBTK-2	chr6:82441203-82441289	NONHSAT113745
3	lnc-IBTK-2	chr6:82434468-82434582	NONHSAT113745
4	lnc-IBTK-2	chr6:82437974-82438109	ENSG00000232031.1
5	lnc-IBTK-2	chr6:82434439-82434582	ENSG00000232031.1

No data

Variant related genes	Relation type
ENSG00000112773	chromatin interactions
ENSG00000180481	chromatin interactions
ENSG00000212336	chromatin interactions

Extended variants
information (count: 1040 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138728331	chr6:82411377-82411378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75762159	chr6:82413815-82413816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564402667	chr6:82413848-82413849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533440396	chr6:82413858-82413859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557723545	chr6:82413910-82413911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76013599	chr6:82413952-82413953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72897410	chr6:82413980-82413981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543945621	chr6:82413981-82413982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184564877	chr6:82414014-82414015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565703841	chr6:82414018-82414019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534566323	chr6:82414035-82414036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76332171	chr6:82414063-82414064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571545968	chr6:82414091-82414092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562862603	chr6:82414095-82414096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189034528	chr6:82414121-82414122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557160150	chr6:82414129-82414130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192523467	chr6:82414135-82414136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573713921	chr6:82414153-82414154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577601960	chr6:82414166-82414167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150688876	chr6:82414188-82414189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184518522	chr6:82414192-82414193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572122035	chr6:82414225-82414226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369139151	chr6:82414253-82414254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541059195	chr6:82414270-82414271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189303186	chr6:82414309-82414310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578227828	chr6:82414347-82414348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543719378	chr6:82414356-82414357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117538278	chr6:82414401-82414402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147720840	chr6:82414420-82414421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144741302	chr6:82414431-82414432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527777375	chr6:82414476-82414477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374218419	chr6:82414489-82414490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181663928	chr6:82414505-82414506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13217375	chr6:82414513-82414514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs142498614	chr6:82414515-82414516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372826599	chr6:82414516-82414517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186672440	chr6:82414543-82414544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189941375	chr6:82414550-82414551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550555281	chr6:82414585-82414586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567474750	chr6:82414635-82414636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142480391	chr6:82414718-82414719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552730976	chr6:82414757-82414758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74923627	chr6:82414775-82414776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181161804	chr6:82414785-82414786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151324567	chr6:82414787-82414788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558145076	chr6:82414808-82414809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186133166	chr6:82414812-82414813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544120360	chr6:82414820-82414821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557339833	chr6:82414839-82414840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140458841	chr6:82414861-82414862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82409800-82411400	Enhancers	Hela-S3	cervix
2	chr6:82411000-82411400	Enhancers	Osteobl	bone
3	chr6:82413800-82417400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:82414600-82417000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:82414800-82415200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:82414800-82415400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:82414800-82415600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:82414800-82415800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:82415000-82415200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:82415000-82415200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:82415200-82417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:82415200-82417600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:82415200-82417600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:82415400-82417000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:82415600-82417600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:82415800-82416000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:82415800-82416000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:82415800-82417600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:82416000-82416600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:82416000-82417000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:82416600-82419800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:82417000-82417200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:82417000-82418800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:82417000-82420600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:82417200-82417400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:82417400-82418000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:82417400-82420400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:82417600-82417800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:82417600-82418000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:82417600-82418200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:82417600-82418400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr6:82417600-82418400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:82417600-82418400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:82417600-82418400	Enhancers	HSMM	muscle
35	chr6:82417600-82418600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:82417600-82418600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:82417600-82418600	Enhancers	NH-A	brain
38	chr6:82417600-82418800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:82417600-82418800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:82417600-82419000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:82417800-82418600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:82418000-82418200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:82418000-82418400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:82418000-82418400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:82418000-82418400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:82418000-82418400	Enhancers	Right Atrium	heart
47	chr6:82418000-82418800	Enhancers	Fetal Heart	heart
48	chr6:82418000-82420800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:82418200-82418400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:82418200-82418600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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