Variant report

Variant	nsv524434
Chromosome Location	chr6:93073425-93150800
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	chr6:93074571-93075200	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:93080612-93081263	HepG2	liver:	n/a	chr6:93081219-93081235
3	CEBPB	chr6:93089630-93089810	H1-hESC	embryonic stem cell:	n/a	chr6:93089772-93089783
4	CEBPB	chr6:93074640-93074907	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:93102607-93102866	H1-hESC	embryonic stem cell:	n/a	chr6:93102723-93102734
6	CEBPB	chr6:93102546-93102883	IMR90	lung:	n/a	chr6:93102723-93102734
7	CEBPB	chr6:93077384-93077673	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr6:93089604-93089882	HepG2	liver:	n/a	chr6:93089772-93089783
9	CEBPB	chr6:93102548-93102901	HepG2	liver:	n/a	chr6:93102723-93102734
10	CEBPB	chr6:93090946-93091307	HepG2	liver:	n/a	chr6:93091128-93091139
11	CEBPB	chr6:93090980-93091297	IMR90	lung:	n/a	chr6:93091128-93091139
12	CEBPB	chr6:93091113-93091208	H1-hESC	embryonic stem cell:	n/a	chr6:93091128-93091139
13	CEBPB	chr6:93080573-93081315	HepG2	liver:	n/a	chr6:93081098-93081109
14	CEBPB	chr6:93107378-93107560	A549	lung:	n/a	chr6:93107469-93107480
15	CEBPB	chr6:93091041-93091205	A549	lung:	n/a	chr6:93091128-93091139
16	CEBPB	chr6:93107406-93107650	HepG2	liver:	n/a	chr6:93107469-93107480
17	CEBPB	chr6:93074643-93075115	HepG2	liver:	n/a	n/a
18	CEBPB	chr6:93080978-93081165	HepG2	liver:	n/a	chr6:93081098-93081109
19	CEBPB	chr6:93089618-93089868	IMR90	lung:	n/a	chr6:93089772-93089783
20	CEBPB	chr6:93091001-93091168	HepG2	liver:	n/a	chr6:93091128-93091139
21	CHD2	chr6:93074762-93075035	HepG2	liver:	n/a	n/a
22	CTCF	chr6:93081736-93081743	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr6:93081780-93081930	BE2_C	brain:	n/a	n/a
24	CTCF	chr6:93081715-93081811	MCF-7	breast:	n/a	chr6:93081752-93081773
25	CTCF	chr6:93143020-93143041	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr6:93081717-93081735	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr6:93091300-93091450	AG10803	skin:	n/a	n/a
28	CTCF	chr6:93108976-93109045	GM20000	blood:	n/a	n/a
29	CTCF	chr6:93086272-93086336	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:93099324-93099386	LNCaP	prostate:	n/a	n/a
31	CTCF	chr6:93081628-93081855	GM12878	blood:	n/a	chr6:93081752-93081773
32	CTCF	chr6:93112382-93112416	Lung_OC	lung:	n/a	n/a
33	E2F4	chr6:93141493-93141670	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr6:93087881-93088012	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr6:93081155-93081518	MCF10A-Er-Src	breast:	n/a	n/a
36	EBF1	chr6:93074799-93074837	GM12878	blood:	n/a	n/a
37	ELK1	chr6:93128213-93128234	Hela-S3	cervix:	n/a	n/a
38	EP300	chr6:93086772-93087281	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr6:93074626-93075006	HepG2	liver:	n/a	chr6:93074694-93074703 chr6:93074693-93074702 chr6:93074867-93074877
40	EP300	chr6:93086435-93086753	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr6:93086824-93087257	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr6:93080937-93081168	HepG2	liver:	n/a	chr6:93081038-93081052 chr6:93081095-93081109 chr6:93081037-93081051
43	EP300	chr6:93140897-93141256	HepG2	liver:	n/a	chr6:93141101-93141111
44	EP300	chr6:93074535-93075124	HepG2	liver:	n/a	chr6:93074694-93074703 chr6:93074693-93074702 chr6:93074867-93074877
45	EP300	chr6:93074499-93075167	HepG2	liver:	n/a	chr6:93074694-93074703 chr6:93074693-93074702 chr6:93074867-93074877
46	EP300	chr6:93118658-93119025	MCF-7	breast:	n/a	n/a
47	EP300	chr6:93086478-93086805	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr6:93085942-93087882	SK-N-SH	brain:	n/a	chr6:93087671-93087685
49	EP300	chr6:93080793-93081241	HepG2	liver:	n/a	chr6:93081038-93081052 chr6:93081095-93081109 chr6:93081037-93081051
50	EP300	chr6:93145926-93145965	GM12878	blood:	n/a	n/a

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

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

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

Extended variants
information (count: 1521 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1521 , 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	rs609578	chr6:93073425-93073426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535146555	chr6:93073429-93073430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564172203	chr6:93073449-93073450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555155790	chr6:93073489-93073490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575824784	chr6:93073525-93073526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544476152	chr6:93073588-93073589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558470223	chr6:93073647-93073648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578238062	chr6:93073667-93073668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540653170	chr6:93073799-93073800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533136162	chr6:93073827-93073828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560481606	chr6:93073835-93073836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189611386	chr6:93073962-93073963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368132836	chr6:93073963-93073964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180697650	chr6:93073972-93073973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543134482	chr6:93073977-93073978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11344956	chr6:93073994-93073995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398002325	chr6:93073996-93073997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562834991	chr6:93074009-93074010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530771151	chr6:93074020-93074021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550465328	chr6:93074026-93074027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570419711	chr6:93074045-93074046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187404776	chr6:93074075-93074076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533030886	chr6:93074079-93074080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201467456	chr6:93074096-93074097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546207093	chr6:93074109-93074110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190273525	chr6:93074132-93074133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200430432	chr6:93074254-93074255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535085210	chr6:93074274-93074275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71030842	chr6:93074288-93074289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555485215	chr6:93074294-93074295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568851120	chr6:93074315-93074316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181586018	chr6:93074389-93074390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185997127	chr6:93074393-93074394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558355624	chr6:93074440-93074441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190415499	chr6:93074443-93074444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540961310	chr6:93074466-93074467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368455341	chr6:93074488-93074489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182705014	chr6:93074555-93074556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574127882	chr6:93074559-93074560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10806455	chr6:93074574-93074575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111970328	chr6:93074637-93074638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548033148	chr6:93074641-93074642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531667898	chr6:93074704-93074705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6903931	chr6:93074714-93074715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186316725	chr6:93074721-93074722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563906001	chr6:93074727-93074728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191068282	chr6:93074842-93074843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115216332	chr6:93074867-93074868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566427324	chr6:93074883-93074884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568244055	chr6:93074904-93074905	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93071800-93076600	Enhancers	HepG2	liver
2	chr6:93072400-93074400	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:93072400-93074600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:93072400-93074600	Weak transcription	Fetal Stomach	stomach
5	chr6:93072400-93074800	Weak transcription	Brain Anterior Caudate	brain
6	chr6:93072600-93074800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:93073200-93074600	Weak transcription	Brain Angular Gyrus	brain
8	chr6:93073200-93075400	Weak transcription	Fetal Brain Male	brain
9	chr6:93074400-93075000	Enhancers	Brain Hippocampus Middle	brain
10	chr6:93074400-93075200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:93074400-93075200	Enhancers	Brain Cingulate Gyrus	brain
12	chr6:93074600-93075000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:93074600-93075000	Enhancers	Brain Angular Gyrus	brain
14	chr6:93074600-93075200	Enhancers	Fetal Stomach	stomach
15	chr6:93074600-93075400	Enhancers	Brain Substantia Nigra	brain
16	chr6:93074800-93075000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr6:93074800-93075200	Enhancers	Brain Anterior Caudate	brain
18	chr6:93075000-93075600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr6:93075200-93085800	Weak transcription	Fetal Stomach	stomach
20	chr6:93076600-93080000	Weak transcription	HepG2	liver
21	chr6:93080000-93082400	Enhancers	HepG2	liver
22	chr6:93085800-93086000	Enhancers	Fetal Stomach	stomach
23	chr6:93086000-93086600	Weak transcription	Fetal Stomach	stomach
24	chr6:93086200-93086800	Enhancers	Brain Substantia Nigra	brain
25	chr6:93086400-93086800	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:93086400-93087200	Enhancers	Fetal Heart	heart
27	chr6:93086400-93087600	Enhancers	Rectal Smooth Muscle	rectum
28	chr6:93086600-93086800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:93086600-93087000	Enhancers	Fetal Lung	lung
30	chr6:93086600-93087600	Enhancers	Colon Smooth Muscle	Colon
31	chr6:93086600-93087800	Enhancers	Fetal Stomach	stomach
32	chr6:93102800-93103200	Enhancers	Fetal Muscle Trunk	muscle
33	chr6:93118200-93118400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:93118800-93119200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:93125000-93126800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:93125200-93126000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:93125400-93125800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:93125400-93126000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:93125400-93126800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:93125400-93126800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:93125600-93127000	Enhancers	Primary T cells from cord blood	blood
42	chr6:93126800-93131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:93127400-93128600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr6:93130800-93144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:93137400-93137800	Enhancers	Fetal Kidney	kidney

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