Variant report

Variant	nsv886229
Chromosome Location	chr6:78620417-78718367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:78635944-78636263	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:78646654-78646963	HepG2	liver:	n/a	n/a
3	CEBPB	chr6:78636105-78636242	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr6:78643089-78643174	A549	lung:	n/a	n/a
5	CEBPB	chr6:78685530-78685797	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr6:78678750-78678987	A549	lung:	n/a	chr6:78678828-78678837 chr6:78678828-78678837 chr6:78678827-78678838 chr6:78678826-78678839 chr6:78678828-78678837 chr6:78678826-78678839 chr6:78678826-78678837 chr6:78678828-78678837
7	CEBPB	chr6:78678742-78679066	HepG2	liver:	n/a	chr6:78678828-78678837 chr6:78678828-78678837 chr6:78678827-78678838 chr6:78678826-78678839 chr6:78678828-78678837 chr6:78678826-78678839 chr6:78678826-78678837 chr6:78678828-78678837
8	CTCF	chr6:78636020-78636170	HepG2	liver:	n/a	n/a
9	CTCF	chr6:78636000-78636150	Caco-2	colon:	n/a	n/a
10	CTCF	chr6:78636060-78636210	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr6:78636060-78636210	HCT-116	colon:	n/a	n/a
12	CTCF	chr6:78636060-78636210	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr6:78636060-78636210	GM12878	blood:	n/a	n/a
14	CTCF	chr6:78715777-78715875	Lung_OC	lung:	n/a	n/a
15	CTCF	chr6:78706734-78706841	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:78636020-78636170	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr6:78636040-78636190	HVMF	connective:	n/a	n/a
18	CTCF	chr6:78635931-78636307	GM12878	blood:	n/a	n/a
19	CTCF	chr6:78636020-78636170	GM12874	blood:	n/a	n/a
20	CTCF	chr6:78636020-78636170	NHEK	skin:	n/a	n/a
21	CTCF	chr6:78636011-78636235	LNCaP	prostate:	n/a	n/a
22	CTCF	chr6:78636080-78636230	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr6:78635908-78636271	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:78636080-78636230	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr6:78635886-78636250	HCT-116	colon:	n/a	n/a
26	CTCF	chr6:78636140-78636290	NB4	blood:	n/a	n/a
27	CTCF	chr6:78636040-78636190	Caco-2	colon:	n/a	n/a
28	CTCF	chr6:78636000-78636150	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr6:78636000-78636150	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:78706705-78706853	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:78689868-78689876	Lung_OC	lung:	n/a	n/a
32	CTCF	chr6:78635992-78636320	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr6:78636020-78636170	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr6:78636033-78636207	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:78636040-78636190	GM12866	blood:	n/a	n/a
36	CTCF	chr6:78636040-78636190	GM12869	blood:	n/a	n/a
37	CTCF	chr6:78636100-78636250	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:78711046-78711182	GM12878	blood:	n/a	n/a
39	CTCF	chr6:78635940-78636090	RPTEC	kidney:	n/a	n/a
40	CTCF	chr6:78636060-78636210	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr6:78636100-78636250	K562	blood:	n/a	n/a
42	CTCF	chr6:78636000-78636150	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr6:78706749-78706783	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:78636000-78636150	GM06990	blood:	n/a	n/a
45	CTCF	chr6:78636020-78636170	GM12867	blood:	n/a	n/a
46	CTCF	chr6:78635796-78636355	HCT-116	colon:	n/a	n/a
47	CTCF	chr6:78663391-78663432	GM13977	blood:	n/a	n/a
48	CTCF	chr6:78636048-78636172	GM13977	blood:	n/a	n/a
49	CTCF	chr6:78636060-78636210	HAc	cerebellar:	n/a	n/a
50	CTCF	chr6:78636049-78636177	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:78449862..78450824-chr6:78635645..78636377,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRAK1BP1-5	chr6:78689525-78690012	l_3208_chr6:78417002-78689824_testes

Variant related genes	Relation type
ENSG00000252932	TF binding region

Extended variants
information (count: 302 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371891955	chr6:78634404-78634405	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs542327852	chr6:78634408-78634409	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557304440	chr6:78634427-78634428	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562336024	chr6:78634450-78634451	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs527903580	chr6:78634458-78634459	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539722199	chr6:78634494-78634495	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs552984122	chr6:78634515-78634516	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs547939185	chr6:78634528-78634529	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571069173	chr6:78634592-78634593	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576373113	chr6:78635836-78635837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187766346	chr6:78635840-78635841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535861174	chr6:78635937-78635938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373159771	chr6:78635945-78635946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192227541	chr6:78635984-78635985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541503107	chr6:78635996-78635997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368952686	chr6:78636031-78636032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577792620	chr6:78636036-78636037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114641194	chr6:78636090-78636091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563654219	chr6:78636093-78636094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185015327	chr6:78636152-78636153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547879712	chr6:78636159-78636160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189521028	chr6:78636232-78636233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542751411	chr6:78636235-78636236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527428856	chr6:78636252-78636253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74442449	chr6:78636256-78636257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562407976	chr6:78636276-78636277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181687909	chr6:78636347-78636348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375277545	chr6:78636424-78636425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138897580	chr6:78636430-78636431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570534765	chr6:78636432-78636433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539662042	chr6:78636454-78636455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184177774	chr6:78636479-78636480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189359455	chr6:78636516-78636517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181769281	chr6:78636519-78636520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528651658	chr6:78636549-78636550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555517021	chr6:78636573-78636574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546680203	chr6:78636586-78636587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566046115	chr6:78636603-78636604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12173339	chr6:78636610-78636611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185161070	chr6:78636631-78636632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149418147	chr6:78636679-78636680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9341706	chr6:78636716-78636717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369859554	chr6:78636768-78636769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144837566	chr6:78636777-78636778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550588906	chr6:78636872-78636873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557085162	chr6:78636878-78636879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140233877	chr6:78636881-78636882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531745523	chr6:78636934-78636935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561557469	chr6:78636948-78636949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145338983	chr6:78636961-78636962	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Developmental delay	21147756	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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78634400-78634600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:78634400-78634600	ZNF genes & repeats	Pancreas	Pancrea
3	chr6:78635800-78637000	Enhancers	Liver	Liver
4	chr6:78639200-78640200	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr6:78639200-78641000	Enhancers	Fetal Heart	heart
6	chr6:78639800-78640400	Active TSS	Right Atrium	heart
7	chr6:78640800-78641000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr6:78648200-78649200	Enhancers	HUVEC	blood vessel
9	chr6:78649400-78649600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:78693000-78694200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:78694200-78694600	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr6:78713000-78713800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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