Variant report

Variant	nsv886349
Chromosome Location	chr6:93044158-93118092
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	chr6:93074571-93075200	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:93080612-93081263	HepG2	liver:	n/a	chr6:93081219-93081235
3	BACH1	chr6:93064218-93064469	H1-hESC	embryonic stem cell:	n/a	chr6:93064374-93064388
4	CEBPB	chr6:93102607-93102866	H1-hESC	embryonic stem cell:	n/a	chr6:93102723-93102734
5	CEBPB	chr6:93091041-93091205	A549	lung:	n/a	chr6:93091128-93091139
6	CEBPB	chr6:93107406-93107650	HepG2	liver:	n/a	chr6:93107469-93107480
7	CEBPB	chr6:93090980-93091297	IMR90	lung:	n/a	chr6:93091128-93091139
8	CEBPB	chr6:93090946-93091307	HepG2	liver:	n/a	chr6:93091128-93091139
9	CEBPB	chr6:93050891-93051304	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr6:93060280-93060530	HepG2	liver:	n/a	chr6:93060453-93060464
11	CEBPB	chr6:93074643-93075115	HepG2	liver:	n/a	n/a
12	CEBPB	chr6:93089604-93089882	HepG2	liver:	n/a	chr6:93089772-93089783
13	CEBPB	chr6:93091001-93091168	HepG2	liver:	n/a	chr6:93091128-93091139
14	CEBPB	chr6:93102548-93102901	HepG2	liver:	n/a	chr6:93102723-93102734
15	CEBPB	chr6:93080573-93081315	HepG2	liver:	n/a	chr6:93081098-93081109
16	CEBPB	chr6:93074640-93074907	HepG2	liver:	n/a	n/a
17	CEBPB	chr6:93080978-93081165	HepG2	liver:	n/a	chr6:93081098-93081109
18	CEBPB	chr6:93107378-93107560	A549	lung:	n/a	chr6:93107469-93107480
19	CEBPB	chr6:93091113-93091208	H1-hESC	embryonic stem cell:	n/a	chr6:93091128-93091139
20	CEBPB	chr6:93063892-93064465	Hela-S3	cervix:	n/a	chr6:93064270-93064281 chr6:93064047-93064058 chr6:93064270-93064281 chr6:93064046-93064059 chr6:93064268-93064281
21	CEBPB	chr6:93049661-93050579	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr6:93077384-93077673	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr6:93102546-93102883	IMR90	lung:	n/a	chr6:93102723-93102734
24	CEBPB	chr6:93089618-93089868	IMR90	lung:	n/a	chr6:93089772-93089783
25	CEBPB	chr6:93089630-93089810	H1-hESC	embryonic stem cell:	n/a	chr6:93089772-93089783
26	CEBPB	chr6:93063888-93064216	HepG2	liver:	n/a	chr6:93064047-93064058 chr6:93064046-93064059
27	CHD2	chr6:93074762-93075035	HepG2	liver:	n/a	n/a
28	CTCF	chr6:93091300-93091450	AG10803	skin:	n/a	n/a
29	CTCF	chr6:93049798-93049975	K562	blood:	n/a	n/a
30	CTCF	chr6:93108976-93109045	GM20000	blood:	n/a	n/a
31	CTCF	chr6:93081717-93081735	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr6:93099324-93099386	LNCaP	prostate:	n/a	n/a
33	CTCF	chr6:93081628-93081855	GM12878	blood:	n/a	chr6:93081752-93081773
34	CTCF	chr6:93081715-93081811	MCF-7	breast:	n/a	chr6:93081752-93081773
35	CTCF	chr6:93081736-93081743	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr6:93086272-93086336	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:93081780-93081930	BE2_C	brain:	n/a	n/a
38	CTCF	chr6:93112382-93112416	Lung_OC	lung:	n/a	n/a
39	E2F4	chr6:93087881-93088012	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr6:93081155-93081518	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr6:93069238-93069425	MCF10A-Er-Src	breast:	n/a	n/a
42	EBF1	chr6:93074799-93074837	GM12878	blood:	n/a	n/a
43	EP300	chr6:93091678-93091765	GM12878	blood:	n/a	n/a
44	EP300	chr6:93063947-93064364	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr6:93050867-93051478	Hela-S3	cervix:	n/a	n/a
46	EP300	chr6:93063969-93064278	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr6:93074535-93075124	HepG2	liver:	n/a	chr6:93074694-93074703 chr6:93074693-93074702 chr6:93074867-93074877
48	EP300	chr6:93086478-93086805	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr6:93063857-93064565	SK-N-SH	brain:	n/a	chr6:93064376-93064385
50	EP300	chr6:93072074-93072453	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:93090182..93092480-chr6:93105991..93108734,2	MCF-7	breast:
2	chr6:93080870..93083476-chr6:93091512..93093788,2	MCF-7	breast:
3	chr6:93090182..93092480-chr6:93105991..93108734,2	MCF-7	breast:
4	chr6:93080870..93083476-chr6:93091512..93093788,2	MCF-7	breast:
5	chr6:93040169..93042395-chr6:93071437..93074372,2	K562	blood:
6	chr6:93030191..93031984-chr6:93042467..93044546,2	MCF-7	breast:
7	chr6:93073777..93076004-chr6:93079318..93081094,2	K562	blood:
8	chr6:93073777..93076004-chr6:93079318..93081094,2	K562	blood:

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

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

Extended variants
information (count: 1541 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1541 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3011816	chr6:93044158-93044159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565476068	chr6:93044181-93044182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566574909	chr6:93044263-93044264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12197276	chr6:93044338-93044339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561597848	chr6:93044345-93044346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192720798	chr6:93044360-93044361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569910836	chr6:93044370-93044371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539126518	chr6:93044372-93044373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183527068	chr6:93044387-93044388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189386302	chr6:93044397-93044398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554460150	chr6:93044431-93044432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533771702	chr6:93044463-93044464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553528049	chr6:93044492-93044493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117752755	chr6:93044517-93044518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73523911	chr6:93044579-93044580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533995785	chr6:93044612-93044613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115193151	chr6:93044675-93044676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77781440	chr6:93044694-93044695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558406135	chr6:93044704-93044705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3004313	chr6:93044712-93044713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541694755	chr6:93044722-93044723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181998128	chr6:93044755-93044756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73523912	chr6:93044756-93044757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138970873	chr6:93044771-93044772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72918692	chr6:93044855-93044856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373413962	chr6:93044856-93044857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374416703	chr6:93044907-93044908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149260037	chr6:93044936-93044937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572719062	chr6:93044947-93044948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3000469	chr6:93044978-93044979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368334076	chr6:93045011-93045012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73754424	chr6:93045041-93045042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12198930	chr6:93045059-93045060	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567080174	chr6:93045073-93045074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531958384	chr6:93045109-93045110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556153872	chr6:93045113-93045114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9451977	chr6:93045160-93045161	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568662250	chr6:93045191-93045192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6909295	chr6:93045222-93045223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186182281	chr6:93045223-93045224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189129221	chr6:93045240-93045241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181700359	chr6:93045243-93045244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143498509	chr6:93045248-93045249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186557123	chr6:93045271-93045272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148020029	chr6:93045308-93045309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115215358	chr6:93045355-93045356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544112063	chr6:93045358-93045359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563861050	chr6:93045398-93045399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191060021	chr6:93045400-93045401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10944587	chr6:93045430-93045431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93040400-93047800	Weak transcription	Hela-S3	cervix
2	chr6:93044000-93045000	Weak transcription	Stomach Mucosa	stomach
3	chr6:93045000-93045600	Enhancers	Stomach Mucosa	stomach
4	chr6:93045600-93050600	Weak transcription	Stomach Mucosa	stomach
5	chr6:93047800-93052400	Enhancers	Hela-S3	cervix
6	chr6:93049000-93050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:93050200-93050600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:93050600-93051000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:93050600-93052000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:93050800-93051000	Enhancers	Stomach Mucosa	stomach
11	chr6:93052400-93064000	Weak transcription	Hela-S3	cervix
12	chr6:93059800-93060200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:93064000-93064400	Enhancers	Adipose Nuclei	Adipose
14	chr6:93064000-93064400	Enhancers	Hela-S3	cervix
15	chr6:93064000-93064600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:93071800-93072000	Enhancers	Brain Hippocampus Middle	brain
17	chr6:93071800-93072000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr6:93071800-93072400	Enhancers	Brain Substantia Nigra	brain
19	chr6:93071800-93073000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:93071800-93073200	Enhancers	Fetal Lung	lung
21	chr6:93071800-93076600	Enhancers	HepG2	liver
22	chr6:93072000-93072200	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr6:93072000-93072200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr6:93072000-93072400	Enhancers	Brain Anterior Caudate	brain
25	chr6:93072000-93072400	Enhancers	Fetal Stomach	stomach
26	chr6:93072200-93072400	Active TSS	Brain Hippocampus Middle	brain
27	chr6:93072200-93072600	Enhancers	Brain Angular Gyrus	brain
28	chr6:93072200-93072600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr6:93072200-93072600	Enhancers	Fetal Brain Male	brain
30	chr6:93072200-93073000	Enhancers	Small Intestine	intestine
31	chr6:93072400-93074400	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:93072400-93074600	Weak transcription	Brain Substantia Nigra	brain
33	chr6:93072400-93074600	Weak transcription	Fetal Stomach	stomach
34	chr6:93072400-93074800	Weak transcription	Brain Anterior Caudate	brain
35	chr6:93072600-93073000	Weak transcription	Brain Angular Gyrus	brain
36	chr6:93072600-93073000	Weak transcription	Fetal Brain Male	brain
37	chr6:93072600-93074800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:93073000-93073200	Enhancers	Brain Angular Gyrus	brain
39	chr6:93073000-93073200	Enhancers	Fetal Brain Male	brain
40	chr6:93073200-93074600	Weak transcription	Brain Angular Gyrus	brain
41	chr6:93073200-93075400	Weak transcription	Fetal Brain Male	brain
42	chr6:93074400-93075000	Enhancers	Brain Hippocampus Middle	brain
43	chr6:93074400-93075200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:93074400-93075200	Enhancers	Brain Cingulate Gyrus	brain
45	chr6:93074600-93075000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:93074600-93075000	Enhancers	Brain Angular Gyrus	brain
47	chr6:93074600-93075200	Enhancers	Fetal Stomach	stomach
48	chr6:93074600-93075400	Enhancers	Brain Substantia Nigra	brain
49	chr6:93074800-93075000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr6:93074800-93075200	Enhancers	Brain Anterior Caudate	brain

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