Variant report

Variant	nsv823738
Chromosome Location	chr6:74709167-74716801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:74710343-74710693	IMR90	lung:	n/a	chr6:74710516-74710529 chr6:74710516-74710527 chr6:74710516-74710529 chr6:74710518-74710529
2	CEBPB	chr6:74710361-74710610	HepG2	liver:	n/a	chr6:74710516-74710529 chr6:74710516-74710527 chr6:74710516-74710529 chr6:74710518-74710529
3	CTCF	chr6:74710880-74711030	AG04449	skin:	n/a	n/a
4	E2F4	chr6:74714107-74714276	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA3	chr6:74715534-74715950	MCF-7	breast:	n/a	chr6:74715760-74715767
6	MYC	chr6:74710407-74710557	MCF10A-Er-Src	breast:	n/a	chr6:74710460-74710475
7	POLR2A	chr6:74715893-74715962	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:74710701-74710751	ovcar-3	ovarian:	n/a
2	chr6:74710701-74710751	AG09309	skin:	n/a
3	chr6:74710701-74710751	HIPEpiC	eye:	n/a
4	chr6:74710701-74710751	MCF-7	breast:	n/a
5	chr6:74710701-74710751	H1-hESC	embryonic stem cell:	embryo
6	chr6:74710701-74710751	GM19239	blood:	n/a
7	chr6:74710701-74710751	T-47D	breast:	n/a
8	chr6:74710701-74710751	HRPEpiC	eye:	n/a
9	chr6:74710701-74710751	AG10803	skin:	n/a
10	chr6:74710701-74710751	HCT-116	colon:	n/a
11	chr6:74710701-74710751	A549	lung:	n/a
12	chr6:74710701-74710751	LNCaP	prostate:	n/a
13	chr6:74710701-74710751	AG09319	gingival:	n/a
14	chr6:74710701-74710751	HepG2	liver:	n/a
15	chr6:74710701-74710751	NH-A	brain:	n/a
16	chr6:74710701-74710751	GM06990	blood:	n/a
17	chr6:74710701-74710751	GM12891	blood:	n/a
18	chr6:74710701-74710751	ECC-1	luminal epithelium:	n/a
19	chr6:74710701-74710751	HAEpiC	amniotic membrane:	n/a
20	chr6:74710701-74710751	AG04449	skin:	fetal
21	chr6:74710701-74710751	Hepatocyte	liver:	n/a
22	chr6:74710701-74710751	HEK293	kidney:	embryo
23	chr6:74710701-74710751	GM12878	blood:	n/a
24	chr6:74710701-74710751	NB4	blood:	n/a
25	chr6:74710701-74710751	K562	blood:	n/a
26	chr6:74710701-74710751	CMK	blood:	n/a
27	chr6:74710701-74710751	RPTEC	kidney:	n/a
28	chr6:74710701-74710751	HUVEC	blood vessel:	n/a
29	chr6:74710701-74710751	BE2_C	brain:	n/a
30	chr6:74710701-74710751	HCM	heart:	n/a
31	chr6:74710701-74710751	HEEpiC	esophagus:	n/a
32	chr6:74710701-74710751	Hela-S3	cervix:	n/a
33	chr6:74710701-74710751	HNPCEpiC	eye:	n/a
34	chr6:74710701-74710751	SK-N-SH	brain:	n/a
35	chr6:74710701-74710751	SK-N-MC	brain:	n/a
36	chr6:74710701-74710751	Caco-2	colon:	n/a
37	chr6:74710701-74710751	SAEC	small airway:	n/a
38	chr6:74710701-74710751	AG04450	lung:	fetal
39	chr6:74710701-74710751	HRE	kidney:	n/a
40	chr6:74710701-74710751	BJ	skin:	n/a
41	chr6:74710701-74710751	NHDF-neo	bronchial:	n/a
42	chr6:74710701-74710751	GM12892	blood:	n/a
43	chr6:74710701-74710751	HL-60	blood:	n/a
44	chr6:74710701-74710751	HCPEpiC	choroid plexus:	n/a
45	chr6:74710701-74710751	IMR90	lung:	fetal
46	chr6:74710701-74710751	SK-N-SH_RA	brain:	n/a
47	chr6:74710701-74710751	MCF10A-Er-Src	breast:	n/a
48	chr6:74710701-74710751	U87	brain:	n/a
49	chr6:74710701-74710751	SKMC	muscle:	n/a
50	chr6:74710701-74710751	HRCEpiC	kidney:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC17A5-2	chr6:74714236-74714528	NONHSAT113584

No data

Variant related genes	Relation type
TXNP7	TF binding region
TXNP7	CpG island

Extended variants
information (count: 89 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184736591	chr6:74710005-74710006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564843305	chr6:74710008-74710009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369835960	chr6:74710081-74710082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9360721	chr6:74710083-74710084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372895936	chr6:74710107-74710108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112185571	chr6:74710111-74710112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544123837	chr6:74710148-74710149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546662656	chr6:74710176-74710177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12213134	chr6:74710185-74710186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9352046	chr6:74710299-74710300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548329973	chr6:74710320-74710321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147516950	chr6:74710345-74710346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527293557	chr6:74710351-74710352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552193249	chr6:74710496-74710497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571210006	chr6:74710504-74710505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538510615	chr6:74710518-74710519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367630180	chr6:74710548-74710549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140397875	chr6:74710568-74710569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556757535	chr6:74710570-74710571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114567783	chr6:74710571-74710572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535644593	chr6:74710588-74710589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553851497	chr6:74710590-74710591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72953254	chr6:74710618-74710619	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7747608	chr6:74710654-74710655	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557724812	chr6:74710681-74710682	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576009216	chr6:74710701-74710702	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577088835	chr6:74710702-74710703	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544513142	chr6:74710719-74710720	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562615303	chr6:74710747-74710748	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373120225	chr6:74710762-74710763	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574581477	chr6:74710763-74710764	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554451907	chr6:74710788-74710789	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144420110	chr6:74710856-74710857	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12207763	chr6:74710860-74710861	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541819132	chr6:74710880-74710881	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527379995	chr6:74710918-74710919	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545602434	chr6:74710927-74710928	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142662787	chr6:74710943-74710944	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187547294	chr6:74710953-74710954	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531200952	chr6:74710966-74710967	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373195255	chr6:74711002-74711003	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146521884	chr6:74711004-74711005	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115977130	chr6:74711013-74711014	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529496271	chr6:74711067-74711068	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559365767	chr6:74711076-74711077	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149218096	chr6:74711090-74711091	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565880767	chr6:74711117-74711118	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376282214	chr6:74711127-74711128	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35376964	chr6:74711136-74711137	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557798228	chr6:74711159-74711160	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Chronic lymphocytic leukemia	21546498	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
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74710000-74710600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:74710400-74711000	Enhancers	NHDF-Ad	bronchial
3	chr6:74710600-74710800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:74710600-74710800	Enhancers	Esophagus	oesophagus
5	chr6:74710600-74711000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:74710600-74711600	Enhancers	Fetal Muscle Leg	muscle
7	chr6:74710800-74711200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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