Variant report

Variant	nsv517659
Chromosome Location	chr6:77300997-77322488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:77303904-77304153	HepG2	liver:	n/a	chr6:77304017-77304028
2	CHD2	chr6:77306735-77306899	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr6:77303098-77303102	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr6:77318136-77318235	GM10266	blood:	n/a	n/a
5	CTCF	chr6:77319015-77319083	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:77319003-77319095	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:77319011-77319120	MCF-7	breast:	n/a	n/a
8	CTCF	chr6:77319065-77319137	Medullo	brain:	n/a	n/a
9	CTCF	chr6:77314846-77314886	GM10266	blood:	n/a	n/a
10	CTCF	chr6:77319012-77319128	HepG2	liver:	n/a	n/a
11	CTCF	chr6:77319001-77319101	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:77315960-77316110	AG09319	gingival:	n/a	n/a
13	CTCF	chr6:77319006-77319086	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:77319020-77319170	MCF-7	breast:	n/a	n/a
15	E2F6	chr6:77303731-77304201	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOS	chr6:77308058-77308380	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr6:77302259-77302623	MCF10A-Er-Src	breast:	n/a	chr6:77302564-77302578
18	FOS	chr6:77302352-77302593	MCF10A-Er-Src	breast:	n/a	chr6:77302564-77302578
19	FOS	chr6:77308066-77308367	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr6:77308070-77308382	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr6:77308093-77308370	MCF10A-Er-Src	breast:	n/a	n/a
22	GTF2F1	chr6:77303570-77304187	H1-hESC	embryonic stem cell:	n/a	n/a
23	GTF2F1	chr6:77306110-77306331	H1-hESC	embryonic stem cell:	n/a	n/a
24	GTF2F1	chr6:77302977-77303145	H1-hESC	embryonic stem cell:	n/a	n/a
25	GTF2F1	chr6:77305329-77305482	H1-hESC	embryonic stem cell:	n/a	n/a
26	GTF2F1	chr6:77309301-77309521	H1-hESC	embryonic stem cell:	n/a	n/a
27	GTF2F1	chr6:77308730-77308990	H1-hESC	embryonic stem cell:	n/a	n/a
28	GTF2F1	chr6:77304880-77305049	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr6:77303785-77304143	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr6:77308040-77308370	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr6:77302294-77302581	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr6:77308045-77308382	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr6:77302228-77302595	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr6:77307146-77307335	MCF10A-Er-Src	breast:	n/a	n/a
35	NFYA	chr6:77322330-77322464	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:77303952-77304179	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr6:77302328-77302833	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr6:77303358-77303586	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr6:77303911-77304044	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:77305853-77305898	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr6:77318954-77319261	H1-hESC	embryonic stem cell:	n/a	n/a
42	RFX5	chr6:77301690-77301808	K562	blood:	n/a	n/a
43	STAT3	chr6:77308142-77308342	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr6:77308131-77308399	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr6:77308126-77308370	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr6:77307992-77308416	MCF10A-Er-Src	breast:	n/a	n/a
47	ZNF143	chr6:77302962-77303041	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IMPG1-1	chr6:77303244-77303340	ENSG00000236635.2
2	lnc-MYO6-2	chr6:77303246-77303340	ENSG00000236635
3	lnc-MYO6-2	chr6:77303246-77303510	XLOC_005354

No data

Variant related genes	Relation type
ENSG00000236635	TF binding region
JAK1	miRNA target sites

Extended variants
information (count: 550 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12175530	chr6:77300997-77300998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550050858	chr6:77301006-77301007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550068115	chr6:77301026-77301027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568774970	chr6:77301060-77301061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546302823	chr6:77301084-77301085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529460719	chr6:77301153-77301154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547996826	chr6:77301165-77301166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541714922	chr6:77301257-77301258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566024415	chr6:77301268-77301269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188212977	chr6:77301304-77301305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558155973	chr6:77301328-77301329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191305041	chr6:77301386-77301387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183036388	chr6:77301395-77301396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28615795	chr6:77301416-77301417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537482754	chr6:77301474-77301475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555697661	chr6:77301486-77301487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573907818	chr6:77301497-77301498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187378587	chr6:77301505-77301506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534504126	chr6:77301506-77301507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546226379	chr6:77301517-77301518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371469681	chr6:77301518-77301519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569354397	chr6:77301572-77301573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536779091	chr6:77301604-77301605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555120332	chr6:77301607-77301608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192161504	chr6:77301644-77301645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577638662	chr6:77301666-77301667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370031716	chr6:77301701-77301702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184785773	chr6:77301762-77301763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201417031	chr6:77301814-77301815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574882477	chr6:77301855-77301856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542260656	chr6:77301878-77301879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562220687	chr6:77301933-77301934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187945463	chr6:77301940-77301941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547639770	chr6:77301971-77301972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192664923	chr6:77301981-77301982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533425479	chr6:77301998-77301999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559191054	chr6:77302017-77302018	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551896718	chr6:77302024-77302025	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570211128	chr6:77302144-77302145	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147978461	chr6:77302181-77302182	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544115534	chr6:77302189-77302190	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549394816	chr6:77302221-77302222	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567415592	chr6:77302234-77302235	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184454726	chr6:77302238-77302239	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189827568	chr6:77302254-77302255	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577421432	chr6:77302264-77302265	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181435481	chr6:77302277-77302278	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374619033	chr6:77302303-77302304	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556633114	chr6:77302318-77302319	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35548821	chr6:77302324-77302325	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77284600-77303000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:77285200-77302000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:77285800-77301400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:77288600-77302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:77288800-77303400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:77289000-77303600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:77297800-77302000	Weak transcription	HUVEC	blood vessel
8	chr6:77301400-77302400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:77302000-77302400	Enhancers	HUVEC	blood vessel
10	chr6:77302000-77304400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr6:77302000-77309000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr6:77302400-77306400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:77303000-77304000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:77303000-77304200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr6:77303000-77304200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr6:77303000-77304400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr6:77303400-77304200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:77303600-77304200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr6:77305400-77305600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr6:77306200-77306800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr6:77306400-77306800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:77316800-77322400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:77318600-77318800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:77318800-77319000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:77318800-77319200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:77319000-77320200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:77319000-77320800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:77319200-77319400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:77319400-77326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:77320200-77320400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:77320800-77321000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:77321000-77321400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:77321400-77322400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:77321400-77323200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:77321600-77322200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:77322200-77322600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:77322200-77323200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:77322200-77323400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:77322200-77323400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:77322400-77322800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:77322400-77323000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:77322400-77323000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr6:77322400-77323200	Enhancers	HUES6 Cell Line	embryonic stem cell

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