Variant report

Variant	nsv604147
Chromosome Location	chr6:93099906-93139916
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	chr6:93107378-93107560	A549	lung:	n/a	chr6:93107469-93107480
2	CEBPB	chr6:93102548-93102901	HepG2	liver:	n/a	chr6:93102723-93102734
3	CEBPB	chr6:93102607-93102866	H1-hESC	embryonic stem cell:	n/a	chr6:93102723-93102734
4	CEBPB	chr6:93102546-93102883	IMR90	lung:	n/a	chr6:93102723-93102734
5	CEBPB	chr6:93107406-93107650	HepG2	liver:	n/a	chr6:93107469-93107480
6	CTCF	chr6:93112382-93112416	Lung_OC	lung:	n/a	n/a
7	CTCF	chr6:93108976-93109045	GM20000	blood:	n/a	n/a
8	ELK1	chr6:93128213-93128234	Hela-S3	cervix:	n/a	n/a
9	EP300	chr6:93118658-93119025	MCF-7	breast:	n/a	n/a
10	FOS	chr6:93128430-93128494	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA3	chr6:93123574-93123893	SH-SY5Y	brain:	n/a	n/a
12	GTF2F1	chr6:93125366-93125375	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAFF	chr6:93137167-93137485	HepG2	liver:	n/a	chr6:93137326-93137344
14	MAFK	chr6:93137171-93137497	IMR90	lung:	n/a	chr6:93137332-93137343 chr6:93137331-93137342 chr6:93137331-93137342 chr6:93137330-93137344 chr6:93137332-93137343 chr6:93137327-93137342
15	MAFK	chr6:93137156-93137508	HepG2	liver:	n/a	chr6:93137332-93137343 chr6:93137331-93137342 chr6:93137331-93137342 chr6:93137330-93137344 chr6:93137332-93137343 chr6:93137327-93137342
16	MAFK	chr6:93137156-93137538	HepG2	liver:	n/a	chr6:93137332-93137343 chr6:93137331-93137342 chr6:93137331-93137342 chr6:93137330-93137344 chr6:93137332-93137343 chr6:93137327-93137342
17	MAFK	chr6:93104236-93104248	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:93106506-93106594	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr6:93115600-93115906	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr6:93109029-93109041	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:93102908-93102997	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:93138271-93138459	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:93138714-93138908	MCF10A-Er-Src	breast:	n/a	n/a
24	SIN3AK20	chr6:93118679-93119194	MCF-7	breast:	n/a	n/a
25	STAT3	chr6:93137609-93137793	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr6:93121353-93121452	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr6:93130134-93130313	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr6:93128390-93128566	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr6:93130258-93130282	MCF10A-Er-Src	breast:	n/a	n/a
30	USF1	chr6:93108039-93108325	H1-hESC	embryonic stem cell:	n/a	n/a
31	USF1	chr6:93108050-93108242	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:72831095..72833795-chr6:93124287..93127004,2	MCF-7	breast:
2	chr5:57537158..57537698-chr6:93136804..93137665,2	MCF-7	breast:
3	chr6:93090182..93092480-chr6:93105991..93108734,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJA10-7	chr6:93104985-93105082	XLOC_005388

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

Extended variants
information (count: 711 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192612152	chr6:93102548-93102549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs537331161	chr6:93102569-93102570	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557434430	chr6:93102682-93102683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577310219	chr6:93102718-93102719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs146770269	chr6:93102730-93102731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542010485	chr6:93102741-93102742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs140335861	chr6:93102765-93102766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541193018	chr6:93102787-93102788	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs185538550	chr6:93102803-93102804	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539382083	chr6:93102808-93102809	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143568723	chr6:93102839-93102840	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs562990707	chr6:93102880-93102881	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2757028	chr6:93102882-93102883	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112118499	chr6:93102903-93102904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528698483	chr6:93102933-93102934	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs140509517	chr6:93102954-93102955	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150393738	chr6:93102975-93102976	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs537796983	chr6:93103012-93103013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373298709	chr6:93103013-93103014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138305906	chr6:93103095-93103096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570871195	chr6:93103102-93103103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539808737	chr6:93103106-93103107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553526369	chr6:93103107-93103108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573315963	chr6:93103110-93103111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574583301	chr6:93103171-93103172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535086626	chr6:93103199-93103200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9345227	chr6:93104996-93104997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs148944576	chr6:93105052-93105053	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs200766554	chr6:93105066-93105067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs9451991	chr6:93105074-93105075	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs71558419	chr6:93118224-93118225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71558420	chr6:93118240-93118241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533266912	chr6:93118274-93118275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558302086	chr6:93118278-93118279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140019397	chr6:93118315-93118316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566488259	chr6:93118337-93118338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186477014	chr6:93118338-93118339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534879660	chr6:93118361-93118362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548676668	chr6:93118391-93118392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145539152	chr6:93118836-93118837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571524128	chr6:93118900-93118901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534099290	chr6:93118911-93118912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377470755	chr6:93118924-93118925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547564027	chr6:93118935-93118936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201625072	chr6:93118936-93118937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113664512	chr6:93118937-93118938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73530013	chr6:93118942-93118943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536542069	chr6:93118965-93118966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556523446	chr6:93119042-93119043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141104445	chr6:93119099-93119100	Enhancers	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93102800-93103200	Enhancers	Fetal Muscle Trunk	muscle
2	chr6:93118200-93118400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:93118800-93119200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:93125000-93126800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:93125200-93126000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:93125400-93125800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:93125400-93126000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:93125400-93126800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:93125400-93126800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:93125600-93127000	Enhancers	Primary T cells from cord blood	blood
11	chr6:93126800-93131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:93127400-93128600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:93130800-93144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:93137400-93137800	Enhancers	Fetal Kidney	kidney

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