Variant report

Variant	nsv886170
Chromosome Location	chr6:75477971-75577359
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	chr6:75566931-75567251	HepG2	liver:	n/a	n/a
2	BACH1	chr6:75557714-75557743	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:75494933-75494984	A549	lung:	n/a	n/a
4	CEBPB	chr6:75494937-75494943	K562	blood:	n/a	n/a
5	CEBPB	chr6:75566891-75567091	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:75566890-75567103	A549	lung:	n/a	n/a
7	CEBPB	chr6:75558084-75558360	HepG2	liver:	n/a	chr6:75558204-75558215
8	CEBPB	chr6:75494940-75495150	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr6:75494808-75495149	IMR90	lung:	n/a	n/a
10	CEBPB	chr6:75494807-75495029	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr6:75553140-75553290	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr6:75504436-75504474	GM13976	blood:	n/a	n/a
13	CTCF	chr6:75528637-75528685	GM20000	blood:	n/a	n/a
14	CTCF	chr6:75499443-75499491	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr6:75523000-75523150	GM12872	blood:	n/a	n/a
16	CTCF	chr6:75540693-75540747	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr6:75539060-75539210	RPTEC	kidney:	n/a	chr6:75539140-75539148
18	E2F4	chr6:75512365-75512514	MCF10A-Er-Src	breast:	n/a	n/a
19	ELK1	chr6:75526309-75526362	K562	blood:	n/a	n/a
20	FOS	chr6:75561583-75561655	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr6:75566098-75566223	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr6:75495005-75495198	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr6:75567056-75567098	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr6:75566932-75567111	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr6:75494998-75495172	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr6:75561445-75561586	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr6:75495066-75495068	MCF10A-Er-Src	breast:	n/a	n/a
28	FOSL2	chr6:75566883-75567145	HepG2	liver:	n/a	n/a
29	FOXA1	chr6:75484184-75484411	A549	lung:	n/a	n/a
30	FOXA1	chr6:75484164-75484524	A549	lung:	n/a	n/a
31	GATA3	chr6:75493408-75493709	MCF-7	breast:	n/a	n/a
32	GATA3	chr6:75484434-75484634	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr6:75493524-75493646	MCF-7	breast:	n/a	n/a
34	GATA3	chr6:75493065-75493911	MCF-7	breast:	n/a	n/a
35	IRF1	chr6:75541667-75541685	K562	blood:	n/a	n/a
36	JUN	chr6:75530466-75530666	K562	blood:	n/a	n/a
37	JUND	chr6:75495081-75495241	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAFF	chr6:75516376-75516541	HepG2	liver:	n/a	chr6:75516471-75516489
39	MAFK	chr6:75479894-75480110	IMR90	lung:	n/a	chr6:75479972-75479983
40	MAFK	chr6:75517132-75517418	HepG2	liver:	n/a	n/a
41	MAFK	chr6:75516453-75516499	HepG2	liver:	n/a	n/a
42	MAFK	chr6:75517155-75517312	Hela-S3	cervix:	n/a	n/a
43	MAFK	chr6:75516352-75516552	HepG2	liver:	n/a	n/a
44	MAFK	chr6:75566735-75566768	HepG2	liver:	n/a	n/a
45	MAFK	chr6:75558666-75558812	HepG2	liver:	n/a	chr6:75558717-75558733 chr6:75558718-75558729
46	MAFK	chr6:75565494-75565694	HepG2	liver:	n/a	chr6:75565570-75565584 chr6:75565567-75565583 chr6:75565571-75565582 chr6:75565572-75565583 chr6:75565572-75565583
47	MAX	chr6:75518475-75518491	NB4	blood:	n/a	n/a
48	MYC	chr6:75561020-75561042	MCF-7	breast:	n/a	n/a
49	MYC	chr6:75561384-75561584	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr6:75527937-75528078	HUVEC	blood vessel:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL12A1-2	chr6:75558793-75560200	NONHSAT113595

Variant related genes	Relation type
ENSG00000219736	TF binding region

Extended variants
information (count: 1188 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1188 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2883136	chr6:75477971-75477972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570017151	chr6:75477972-75477973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530891922	chr6:75478037-75478038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549521003	chr6:75478065-75478066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373249829	chr6:75478168-75478169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554536261	chr6:75478208-75478209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558547380	chr6:75478236-75478237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80065252	chr6:75478237-75478238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561947067	chr6:75478244-75478245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535274196	chr6:75478261-75478262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538617494	chr6:75478290-75478291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568307587	chr6:75478292-75478293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557528631	chr6:75478317-75478318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553529300	chr6:75478329-75478330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571876806	chr6:75478330-75478331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575803558	chr6:75478371-75478372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539304359	chr6:75478405-75478406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185352370	chr6:75478448-75478449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190162977	chr6:75478469-75478470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542171683	chr6:75478471-75478472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572131839	chr6:75478525-75478526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555183525	chr6:75478612-75478613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10498902	chr6:75478631-75478632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs368849571	chr6:75478755-75478756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540943506	chr6:75478808-75478809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116292259	chr6:75478809-75478810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565066898	chr6:75478830-75478831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532336991	chr6:75478855-75478856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544509284	chr6:75478921-75478922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562611711	chr6:75478995-75478996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565390486	chr6:75479009-75479010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181385466	chr6:75479104-75479105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549389814	chr6:75479130-75479131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139937451	chr6:75479142-75479143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185884851	chr6:75479147-75479148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546912743	chr6:75479159-75479160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4267920	chr6:75479160-75479161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376577467	chr6:75479168-75479169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377579791	chr6:75479176-75479177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571829677	chr6:75479197-75479198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369774950	chr6:75479229-75479230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115453810	chr6:75479271-75479272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4708164	chr6:75479295-75479296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs569169740	chr6:75479299-75479300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539614493	chr6:75479308-75479309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145475017	chr6:75479320-75479321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572630158	chr6:75479321-75479322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192079241	chr6:75479330-75479331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58672023	chr6:75479397-75479398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183830820	chr6:75479416-75479417	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Malignant fibrous histiocytomas	21085701	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
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75477800-75478200	Enhancers	NHDF-Ad	bronchial
2	chr6:75477800-75478600	Enhancers	Adipose Nuclei	Adipose
3	chr6:75477800-75478800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:75478600-75480200	Enhancers	Ovary	ovary
5	chr6:75480200-75484600	Weak transcription	Ovary	ovary
6	chr6:75490400-75492000	Enhancers	Ovary	ovary
7	chr6:75490600-75492000	Enhancers	Pancreas	Pancrea
8	chr6:75491600-75492000	Enhancers	Aorta	Aorta
9	chr6:75491800-75492600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:75492000-75492600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:75492600-75494600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:75492800-75493400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:75494600-75495600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:75510000-75511600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:75511600-75514000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:75515400-75515800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:75515800-75516000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:75515800-75516200	Active TSS	Ovary	ovary
19	chr6:75515800-75516400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:75516000-75516200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:75516000-75516400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:75516000-75516600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:75516000-75516600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:75516200-75516400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:75516200-75516600	Enhancers	Ovary	ovary
26	chr6:75516400-75516600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:75516600-75517600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:75517600-75517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:75521400-75521800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:75524400-75524600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:75535800-75536200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:75535800-75536600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:75536000-75536400	Active TSS	Ovary	ovary
34	chr6:75536000-75536400	Enhancers	NHDF-Ad	bronchial
35	chr6:75538800-75539200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:75544400-75545200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:75561000-75561400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:75561000-75561400	Enhancers	Adipose Nuclei	Adipose
39	chr6:75561000-75561800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:75561000-75561800	Enhancers	NHDF-Ad	bronchial
41	chr6:75561000-75562200	Enhancers	HSMM	muscle
42	chr6:75561000-75562200	Enhancers	HSMMtube	muscle
43	chr6:75561000-75562400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:75561200-75561800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:75562200-75563400	Weak transcription	HSMM	muscle
46	chr6:75562400-75562800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:75562800-75563800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:75563000-75563600	Enhancers	Rectal Smooth Muscle	rectum
49	chr6:75563000-75564000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr6:75563200-75563600	Enhancers	Ovary	ovary

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