Variant report

Variant	nsv818443
Chromosome Location	chr6:93065336-93150800
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	chr6:93080612-93081263	HepG2	liver:	n/a	chr6:93081219-93081235
2	ARID3A	chr6:93074571-93075200	HepG2	liver:	n/a	n/a
3	CEBPB	chr6:93091041-93091205	A549	lung:	n/a	chr6:93091128-93091139
4	CEBPB	chr6:93089604-93089882	HepG2	liver:	n/a	chr6:93089772-93089783
5	CEBPB	chr6:93091001-93091168	HepG2	liver:	n/a	chr6:93091128-93091139
6	CEBPB	chr6:93080978-93081165	HepG2	liver:	n/a	chr6:93081098-93081109
7	CEBPB	chr6:93077384-93077673	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr6:93089618-93089868	IMR90	lung:	n/a	chr6:93089772-93089783
9	CEBPB	chr6:93090946-93091307	HepG2	liver:	n/a	chr6:93091128-93091139
10	CEBPB	chr6:93102607-93102866	H1-hESC	embryonic stem cell:	n/a	chr6:93102723-93102734
11	CEBPB	chr6:93102548-93102901	HepG2	liver:	n/a	chr6:93102723-93102734
12	CEBPB	chr6:93074640-93074907	HepG2	liver:	n/a	n/a
13	CEBPB	chr6:93102546-93102883	IMR90	lung:	n/a	chr6:93102723-93102734
14	CEBPB	chr6:93107378-93107560	A549	lung:	n/a	chr6:93107469-93107480
15	CEBPB	chr6:93090980-93091297	IMR90	lung:	n/a	chr6:93091128-93091139
16	CEBPB	chr6:93089630-93089810	H1-hESC	embryonic stem cell:	n/a	chr6:93089772-93089783
17	CEBPB	chr6:93074643-93075115	HepG2	liver:	n/a	n/a
18	CEBPB	chr6:93091113-93091208	H1-hESC	embryonic stem cell:	n/a	chr6:93091128-93091139
19	CEBPB	chr6:93080573-93081315	HepG2	liver:	n/a	chr6:93081098-93081109
20	CEBPB	chr6:93107406-93107650	HepG2	liver:	n/a	chr6:93107469-93107480
21	CHD2	chr6:93074762-93075035	HepG2	liver:	n/a	n/a
22	CTCF	chr6:93086272-93086336	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:93081628-93081855	GM12878	blood:	n/a	chr6:93081752-93081773
24	CTCF	chr6:93108976-93109045	GM20000	blood:	n/a	n/a
25	CTCF	chr6:93081780-93081930	BE2_C	brain:	n/a	n/a
26	CTCF	chr6:93099324-93099386	LNCaP	prostate:	n/a	n/a
27	CTCF	chr6:93081715-93081811	MCF-7	breast:	n/a	chr6:93081752-93081773
28	CTCF	chr6:93091300-93091450	AG10803	skin:	n/a	n/a
29	CTCF	chr6:93081717-93081735	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr6:93143020-93143041	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr6:93081736-93081743	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr6:93112382-93112416	Lung_OC	lung:	n/a	n/a
33	E2F4	chr6:93081155-93081518	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr6:93141493-93141670	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr6:93069238-93069425	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr6:93087881-93088012	MCF10A-Er-Src	breast:	n/a	n/a
37	EBF1	chr6:93074799-93074837	GM12878	blood:	n/a	n/a
38	ELK1	chr6:93128213-93128234	Hela-S3	cervix:	n/a	n/a
39	EP300	chr6:93072074-93072453	GM12878	blood:	n/a	n/a
40	EP300	chr6:93145926-93145965	GM12878	blood:	n/a	n/a
41	EP300	chr6:93074499-93075167	HepG2	liver:	n/a	chr6:93074694-93074703 chr6:93074693-93074702 chr6:93074867-93074877
42	EP300	chr6:93086478-93086805	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr6:93086824-93087257	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr6:93072183-93072486	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr6:93080857-93081322	HepG2	liver:	n/a	chr6:93081038-93081052 chr6:93081095-93081109 chr6:93081037-93081051
46	EP300	chr6:93086435-93086753	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr6:93080937-93081168	HepG2	liver:	n/a	chr6:93081038-93081052 chr6:93081095-93081109 chr6:93081037-93081051
48	EP300	chr6:93074535-93075124	HepG2	liver:	n/a	chr6:93074694-93074703 chr6:93074693-93074702 chr6:93074867-93074877
49	EP300	chr6:93080793-93081241	HepG2	liver:	n/a	chr6:93081038-93081052 chr6:93081095-93081109 chr6:93081037-93081051
50	EP300	chr6:93118658-93119025	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:93090182..93092480-chr6:93105991..93108734,2	MCF-7	breast:
2	chr17:72831095..72833795-chr6:93124287..93127004,2	MCF-7	breast:
3	chr6:93090182..93092480-chr6:93105991..93108734,2	MCF-7	breast:
4	chr6:93073777..93076004-chr6:93079318..93081094,2	K562	blood:
5	chr6:93073777..93076004-chr6:93079318..93081094,2	K562	blood:
6	chr6:93080870..93083476-chr6:93091512..93093788,2	MCF-7	breast:
7	chr6:93040169..93042395-chr6:93071437..93074372,2	K562	blood:
8	chr6:93080870..93083476-chr6:93091512..93093788,2	MCF-7	breast:
9	chr5:57537158..57537698-chr6:93136804..93137665,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPHA7-3	chr6:93097559-93098545	ENSG00000261038.1
2	lnc-GJA10-7	chr6:93104985-93105082	XLOC_005388
3	lnc-GJA10-7	chr6:93098931-93098983	XLOC_005388
4	lnc-GJA10-7	chr6:93099252-93099429	XLOC_005388

Variant related genes	Relation type
ENSG00000261038	TF binding region
ENSG00000109066	chromatin interactions
C3orf18	miRNA target sites
C3orf38	miRNA target sites
C3orf58	miRNA target sites

Extended variants
information (count: 1598 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1598 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538564145	chr6:93071871-93071872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111704893	chr6:93071885-93071886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116660980	chr6:93071892-93071893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78989388	chr6:93071900-93071901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs626653	chr6:93071914-93071915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148630469	chr6:93071916-93071917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142122294	chr6:93071921-93071922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532185309	chr6:93071930-93071931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146170648	chr6:93071931-93071932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559484136	chr6:93071960-93071961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189966561	chr6:93071969-93071970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528644552	chr6:93071988-93071989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139096851	chr6:93072007-93072008	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568736662	chr6:93072043-93072044	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530854204	chr6:93072049-93072050	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550913653	chr6:93072053-93072054	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs930028	chr6:93072061-93072062	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539894188	chr6:93072085-93072086	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs603020	chr6:93072095-93072096	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182473686	chr6:93072111-93072112	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576899615	chr6:93072157-93072158	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533766933	chr6:93072178-93072179	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554942988	chr6:93072187-93072188	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369136311	chr6:93072237-93072238	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376308325	chr6:93072291-93072292	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574634758	chr6:93072308-93072309	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs371178516	chr6:93072322-93072323	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374594841	chr6:93072348-93072349	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs11967212	chr6:93072394-93072395	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1535408	chr6:93072414-93072415	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs144014381	chr6:93072418-93072419	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187984209	chr6:93072433-93072434	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369305396	chr6:93072445-93072446	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545527017	chr6:93072453-93072454	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs192312403	chr6:93072466-93072467	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573145695	chr6:93072467-93072468	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542012423	chr6:93072490-93072491	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs7769347	chr6:93072504-93072505	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576592077	chr6:93072507-93072508	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs544565189	chr6:93072512-93072513	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185850616	chr6:93072533-93072534	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs550722191	chr6:93072538-93072539	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs564471647	chr6:93072543-93072544	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs16885728	chr6:93072547-93072548	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547144448	chr6:93072623-93072624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566968729	chr6:93072625-93072626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188616618	chr6:93072630-93072631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16885729	chr6:93072687-93072688	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568285480	chr6:93072690-93072691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537315766	chr6:93072705-93072706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93071800-93072000	Enhancers	Brain Hippocampus Middle	brain
2	chr6:93071800-93072000	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr6:93071800-93072400	Enhancers	Brain Substantia Nigra	brain
4	chr6:93071800-93073000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:93071800-93073200	Enhancers	Fetal Lung	lung
6	chr6:93071800-93076600	Enhancers	HepG2	liver
7	chr6:93072000-93072200	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr6:93072000-93072200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:93072000-93072400	Enhancers	Brain Anterior Caudate	brain
10	chr6:93072000-93072400	Enhancers	Fetal Stomach	stomach
11	chr6:93072200-93072400	Active TSS	Brain Hippocampus Middle	brain
12	chr6:93072200-93072600	Enhancers	Brain Angular Gyrus	brain
13	chr6:93072200-93072600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:93072200-93072600	Enhancers	Fetal Brain Male	brain
15	chr6:93072200-93073000	Enhancers	Small Intestine	intestine
16	chr6:93072400-93074400	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:93072400-93074600	Weak transcription	Brain Substantia Nigra	brain
18	chr6:93072400-93074600	Weak transcription	Fetal Stomach	stomach
19	chr6:93072400-93074800	Weak transcription	Brain Anterior Caudate	brain
20	chr6:93072600-93073000	Weak transcription	Brain Angular Gyrus	brain
21	chr6:93072600-93073000	Weak transcription	Fetal Brain Male	brain
22	chr6:93072600-93074800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:93073000-93073200	Enhancers	Brain Angular Gyrus	brain
24	chr6:93073000-93073200	Enhancers	Fetal Brain Male	brain
25	chr6:93073200-93074600	Weak transcription	Brain Angular Gyrus	brain
26	chr6:93073200-93075400	Weak transcription	Fetal Brain Male	brain
27	chr6:93074400-93075000	Enhancers	Brain Hippocampus Middle	brain
28	chr6:93074400-93075200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:93074400-93075200	Enhancers	Brain Cingulate Gyrus	brain
30	chr6:93074600-93075000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:93074600-93075000	Enhancers	Brain Angular Gyrus	brain
32	chr6:93074600-93075200	Enhancers	Fetal Stomach	stomach
33	chr6:93074600-93075400	Enhancers	Brain Substantia Nigra	brain
34	chr6:93074800-93075000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr6:93074800-93075200	Enhancers	Brain Anterior Caudate	brain
36	chr6:93075000-93075600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr6:93075200-93085800	Weak transcription	Fetal Stomach	stomach
38	chr6:93076600-93080000	Weak transcription	HepG2	liver
39	chr6:93080000-93082400	Enhancers	HepG2	liver
40	chr6:93085800-93086000	Enhancers	Fetal Stomach	stomach
41	chr6:93086000-93086600	Weak transcription	Fetal Stomach	stomach
42	chr6:93086200-93086800	Enhancers	Brain Substantia Nigra	brain
43	chr6:93086400-93086800	Enhancers	Brain Cingulate Gyrus	brain
44	chr6:93086400-93087200	Enhancers	Fetal Heart	heart
45	chr6:93086400-93087600	Enhancers	Rectal Smooth Muscle	rectum
46	chr6:93086600-93086800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr6:93086600-93087000	Enhancers	Fetal Lung	lung
48	chr6:93086600-93087600	Enhancers	Colon Smooth Muscle	Colon
49	chr6:93086600-93087800	Enhancers	Fetal Stomach	stomach
50	chr6:93102800-93103200	Enhancers	Fetal Muscle Trunk	muscle

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