Variant report

Variant	nsv970316
Chromosome Location	chr6:87124448-87151185
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	chr6:87127208-87127411	A549	lung:	n/a	chr6:87127280-87127293 chr6:87127280-87127291
2	CTCF	chr6:87140804-87140828	GM19239	blood:	n/a	chr6:87140814-87140827
3	CTCF	chr6:87140778-87140881	MCF-7	breast:	n/a	chr6:87140814-87140827
4	CTCF	chr6:87144840-87144990	BE2_C	brain:	n/a	n/a
5	CTCF	chr6:87144960-87145110	HEK293	kidney:	n/a	n/a
6	CTCF	chr6:87144441-87144461	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr6:87140772-87140888	MCF-7	breast:	n/a	chr6:87140814-87140827
8	CTCF	chr6:87144420-87144570	HepG2	liver:	n/a	n/a
9	EBF1	chr6:87131381-87131523	GM12878	blood:	n/a	chr6:87131415-87131425 chr6:87131414-87131425 chr6:87131413-87131426 chr6:87131415-87131424 chr6:87131415-87131424
10	GATA2	chr6:87150375-87151177	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr6:87150232-87151197	SH-SY5Y	brain:	n/a	n/a
12	JUN	chr6:87127345-87127421	HepG2	liver:	n/a	chr6:87127383-87127393 chr6:87127383-87127393 chr6:87127382-87127394 chr6:87127384-87127393 chr6:87127383-87127393 chr6:87127345-87127358 chr6:87127383-87127393
13	MAFF	chr6:87145251-87145570	HepG2	liver:	n/a	chr6:87145401-87145419 chr6:87145400-87145414
14	MAFF	chr6:87145341-87145517	K562	blood:	n/a	chr6:87145401-87145419 chr6:87145400-87145414
15	MAFK	chr6:87148443-87148496	HepG2	liver:	n/a	chr6:87148455-87148470
16	MAFK	chr6:87145267-87145524	IMR90	lung:	n/a	chr6:87145400-87145414 chr6:87145406-87145417 chr6:87145401-87145411 chr6:87145407-87145418 chr6:87145399-87145415 chr6:87145405-87145419 chr6:87145404-87145413 chr6:87145407-87145418 chr6:87145402-87145418 chr6:87145402-87145417 chr6:87145397-87145417
17	MAFK	chr6:87145245-87145539	HepG2	liver:	n/a	chr6:87145400-87145414 chr6:87145406-87145417 chr6:87145401-87145411 chr6:87145407-87145418 chr6:87145399-87145415 chr6:87145405-87145419 chr6:87145404-87145413 chr6:87145407-87145418 chr6:87145402-87145418 chr6:87145402-87145417 chr6:87145397-87145417
18	MAFK	chr6:87148434-87148441	HepG2	liver:	n/a	n/a
19	MAFK	chr6:87145235-87145554	HepG2	liver:	n/a	chr6:87145400-87145414 chr6:87145406-87145417 chr6:87145401-87145411 chr6:87145407-87145418 chr6:87145399-87145415 chr6:87145405-87145419 chr6:87145404-87145413 chr6:87145407-87145418 chr6:87145402-87145418 chr6:87145402-87145417 chr6:87145397-87145417
20	MYC	chr6:87145129-87145285	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr6:87140813-87140858	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:87142775-87142894	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:87132069-87132206	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:87147613-87147875	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr6:87139572-87139711	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:87130418-87130440	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:87131234-87131587	SK-N-MC	brain:	n/a	n/a
28	RAD21	chr6:87140711-87140911	H1-hESC	embryonic stem cell:	n/a	chr6:87140816-87140830
29	RAD21	chr6:87144289-87144641	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr6:87140624-87141043	H1-hESC	embryonic stem cell:	n/a	chr6:87140816-87140830
31	STAT3	chr6:87135083-87135229	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr6:87144197-87144215	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr6:87133725-87133859	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:87137565..87139106-chr6:87140631..87142698,2	K562	blood:
2	chr6:87121819..87123929-chr6:87125096..87127462,2	MCF-7	breast:
3	chr6:87137847..87140371-chr6:87144269..87146494,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HTR1E-4	chr6:87141962-87142387	NONHSAT113880
2	lnc-HTR1E-3	chr6:87145570-87145854	NONHSAT113881

Variant related genes	Relation type
ENSG00000219500	TF binding region
RN7SL643P	TF binding region
ENSG00000219500	chromatin interactions
ENSG00000243124	chromatin interactions

Extended variants
information (count: 557 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373984014	chr6:87129814-87129815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181077953	chr6:87129861-87129862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369708172	chr6:87129947-87129948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532221687	chr6:87129955-87129956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529408970	chr6:87129974-87129975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565669139	chr6:87129975-87129976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77860430	chr6:87130023-87130024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554271192	chr6:87130035-87130036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570300796	chr6:87130046-87130047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537359899	chr6:87130049-87130050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558709686	chr6:87130063-87130064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368204498	chr6:87130067-87130068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577052219	chr6:87130120-87130121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541124428	chr6:87130128-87130129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553092679	chr6:87130149-87130150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574847294	chr6:87130150-87130151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75639468	chr6:87130161-87130162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564800651	chr6:87130170-87130171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542162277	chr6:87130247-87130248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373573979	chr6:87130283-87130284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531602894	chr6:87130302-87130303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543776935	chr6:87130312-87130313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1532982	chr6:87130338-87130339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565068278	chr6:87130362-87130363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532385412	chr6:87130394-87130395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35352276	chr6:87130415-87130416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35115101	chr6:87130417-87130418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148635242	chr6:87130421-87130422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185562944	chr6:87130472-87130473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9450450	chr6:87130477-87130478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs544227204	chr6:87130488-87130489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548133637	chr6:87130513-87130514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs16876999	chr6:87130519-87130520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537727276	chr6:87130537-87130538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142077332	chr6:87130560-87130561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570701357	chr6:87130562-87130563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534850314	chr6:87130564-87130565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553155696	chr6:87130599-87130600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150715096	chr6:87130653-87130654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574850412	chr6:87130661-87130662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139419184	chr6:87130674-87130675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191755210	chr6:87130705-87130706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560941774	chr6:87130718-87130719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145685598	chr6:87130729-87130730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543728511	chr6:87130755-87130756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147733978	chr6:87130766-87130767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115818197	chr6:87130798-87130799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541198528	chr6:87130805-87130806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142549448	chr6:87130806-87130807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79181816	chr6:87130828-87130829	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
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
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87129800-87130600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:87130600-87134400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:87132000-87132200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:87132200-87133800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:87134400-87135000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:87135000-87135600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:87135200-87136000	Enhancers	Fetal Heart	heart
8	chr6:87135600-87136000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:87140600-87141200	Enhancers	Brain Anterior Caudate	brain
10	chr6:87146400-87146800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:87146800-87147800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:87147800-87148000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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