Variant report

Variant	nsv1020221
Chromosome Location	chr6:85942790-85964024
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	CEBPB	chr6:85960565-85960909	Hela-S3	cervix:	n/a	chr6:85960728-85960741
2	CEBPB	chr6:85951266-85951468	H1-hESC	embryonic stem cell:	n/a	chr6:85951443-85951455 chr6:85951420-85951431 chr6:85951419-85951432
3	CEBPB	chr6:85952501-85952527	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:85951250-85951574	IMR90	lung:	n/a	chr6:85951443-85951455 chr6:85951420-85951431 chr6:85951419-85951432
5	CEBPB	chr6:85962382-85962498	A549	lung:	n/a	n/a
6	CEBPB	chr6:85951257-85951518	HepG2	liver:	n/a	chr6:85951443-85951455 chr6:85951420-85951431 chr6:85951419-85951432
7	CEBPB	chr6:85951255-85951493	A549	lung:	n/a	chr6:85951443-85951455 chr6:85951420-85951431 chr6:85951419-85951432
8	CEBPB	chr6:85951283-85951531	K562	blood:	n/a	chr6:85951443-85951455 chr6:85951420-85951431 chr6:85951419-85951432
9	CTCF	chr6:85953564-85953593	LNCaP	prostate:	n/a	n/a
10	CTCF	chr6:85960920-85961070	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr6:85945900-85945931	GM13976	blood:	n/a	n/a
12	CTCF	chr6:85958697-85958773	Lung_OC	lung:	n/a	n/a
13	EBF1	chr6:85954286-85954563	GM12878	blood:	n/a	n/a
14	FOS	chr6:85950436-85950846	HUVEC	blood vessel:	n/a	n/a
15	FOS	chr6:85946478-85946611	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr6:85960758-85960895	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr6:85960633-85960935	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr6:85960633-85960958	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr6:85946417-85946531	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr6:85960635-85960956	MCF10A-Er-Src	breast:	n/a	n/a
21	KAP1	chr6:85960469-85961375	U2OS	brain:	n/a	n/a
22	KAP1	chr6:85960018-85961186	HEK293	kidney:	n/a	n/a
23	KAP1	chr6:85961686-85962231	HEK293	kidney:	n/a	n/a
24	MAFF	chr6:85952011-85952268	HepG2	liver:	n/a	chr6:85952079-85952097
25	MAFK	chr6:85951918-85952196	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:85952332-85952393	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr6:85943541-85943740	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr6:85960726-85960926	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr6:85961021-85961067	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr6:85952937-85953033	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr6:85951416-85951474	MCF10A-Er-Src	breast:	n/a	n/a
32	SETDB1	chr6:85961648-85962454	U2OS	brain:	n/a	n/a
33	SETDB1	chr6:85960491-85961221	U2OS	brain:	n/a	n/a
34	SPI1	chr6:85943352-85943653	HL-60	blood:	n/a	chr6:85943458-85943471 chr6:85943458-85943471
35	STAT3	chr6:85954988-85955124	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr6:85960528-85961027	MCF10A-Er-Src	breast:	n/a	chr6:85960791-85960814 chr6:85960791-85960800 chr6:85960788-85960802 chr6:85960789-85960800 chr6:85960790-85960799
37	STAT3	chr6:85960586-85960958	Hela-S3	cervix:	n/a	chr6:85960791-85960814 chr6:85960791-85960800 chr6:85960788-85960802 chr6:85960789-85960800 chr6:85960790-85960799
38	STAT3	chr6:85960394-85961011	MCF10A-Er-Src	breast:	n/a	chr6:85960791-85960814 chr6:85960486-85960495 chr6:85960484-85960498 chr6:85960791-85960800 chr6:85960788-85960802 chr6:85960789-85960800 chr6:85960464-85960472 chr6:85960790-85960799 chr6:85960487-85960496
39	STAT3	chr6:85960602-85960986	MCF10A-Er-Src	breast:	n/a	chr6:85960791-85960814 chr6:85960791-85960800 chr6:85960788-85960802 chr6:85960789-85960800 chr6:85960790-85960799
40	STAT3	chr6:85960630-85961111	MCF10A-Er-Src	breast:	n/a	chr6:85960791-85960814 chr6:85960791-85960800 chr6:85960788-85960802 chr6:85960789-85960800 chr6:85960790-85960799
41	STAT3	chr6:85960529-85961002	MCF10A-Er-Src	breast:	n/a	chr6:85960791-85960814 chr6:85960791-85960800 chr6:85960788-85960802 chr6:85960789-85960800 chr6:85960790-85960799

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:85944599..85947335-chr6:85950567..85952536,2	K562	blood:
2	chr6:85944599..85947335-chr6:85950567..85952536,2	K562	blood:

Variant related genes	Relation type
ENSG00000216902	TF binding region

Extended variants
information (count: 387 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147232932	chr6:85945210-85945211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192077414	chr6:85945234-85945235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528936957	chr6:85945270-85945271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183218217	chr6:85945284-85945285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187936282	chr6:85945286-85945287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189717451	chr6:85945360-85945361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528338785	chr6:85945376-85945377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551664886	chr6:85945400-85945401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566666444	chr6:85945414-85945415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527445054	chr6:85945455-85945456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549499434	chr6:85945475-85945476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182368770	chr6:85945479-85945480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537879276	chr6:85945504-85945505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556162565	chr6:85945526-85945527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148716301	chr6:85945542-85945543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115969740	chr6:85945567-85945568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1321728	chr6:85945575-85945576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs76948967	chr6:85945597-85945598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542842995	chr6:85945627-85945628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555472917	chr6:85945640-85945641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16875897	chr6:85945680-85945681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs16875898	chr6:85945716-85945717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1358834	chr6:85945834-85945835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532914194	chr6:85945840-85945841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545288850	chr6:85945900-85945901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560181745	chr6:85945952-85945953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73750417	chr6:85946042-85946043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs80042828	chr6:85946054-85946055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374870665	chr6:85946126-85946127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142731750	chr6:85946132-85946133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187974133	chr6:85946144-85946145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151005234	chr6:85946162-85946163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571313141	chr6:85946176-85946177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376506953	chr6:85946233-85946234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557189355	chr6:85946234-85946235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538644248	chr6:85946315-85946316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372044638	chr6:85946317-85946318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192656545	chr6:85946354-85946355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567637594	chr6:85946359-85946360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs16875899	chr6:85946402-85946403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536878513	chr6:85946418-85946419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144743690	chr6:85946451-85946452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527407674	chr6:85946458-85946459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35184861	chr6:85946470-85946471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs700499	chr6:85946501-85946502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537947407	chr6:85946513-85946514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556245144	chr6:85946516-85946517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577756884	chr6:85946526-85946527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544666306	chr6:85946529-85946530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570636492	chr6:85946544-85946545	Weak transcription Enhancers	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
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	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:85945200-85947600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:85946000-85946200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:85946200-85947200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:85947200-85947600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:85947400-85948000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:85947600-85949600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:85949600-85952000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:85950400-85951000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:85950400-85951000	Enhancers	Osteobl	bone
10	chr6:85950400-85951400	Enhancers	HUVEC	blood vessel
11	chr6:85950400-85952000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:85954600-85955000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:85958400-85962600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:85960200-85961600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:85960400-85961400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:85960400-85962800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:85960600-85961000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:85960600-85961000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:85960600-85961200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:85960600-85961200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:85960600-85961200	Enhancers	Osteobl	bone
22	chr6:85960600-85961400	Enhancers	Hela-S3	cervix
23	chr6:85960800-85961400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:85960800-85961400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:85961000-85961400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links