Variant report

Variant	nsv5366
Chromosome Location	chr6:79497125-79537571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:296)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:79520313-79520791	MCF-7	breast:	n/a	n/a
2	CEBPB	chr6:79520489-79520812	IMR90	lung:	n/a	n/a
3	CEBPB	chr6:79520364-79520709	MCF-7	breast:	n/a	n/a
4	CEBPB	chr6:79520350-79520744	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr6:79528045-79528073	IMR90	lung:	n/a	n/a
6	CEBPD	chr6:79529447-79529729	K562	blood:	n/a	n/a
7	CTCF	chr6:79537023-79537073	GM13976	blood:	n/a	n/a
8	CTCF	chr6:79519977-79520160	GM19238	blood:	n/a	n/a
9	CTCF	chr6:79519926-79520204	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:79520020-79520170	GM12872	blood:	n/a	n/a
11	CTCF	chr6:79520020-79520170	HMEC	breast:	n/a	n/a
12	CTCF	chr6:79519980-79520130	AG04450	lung:	n/a	n/a
13	CTCF	chr6:79519941-79520188	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:79519903-79520172	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr6:79498647-79498867	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:79519786-79520385	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:79520020-79520170	GM12865	blood:	n/a	n/a
18	CTCF	chr6:79520000-79520150	HAc	cerebellar:	n/a	n/a
19	CTCF	chr6:79498660-79498810	MCF-7	breast:	n/a	n/a
20	CTCF	chr6:79520300-79520450	SAEC	small airway:	n/a	n/a
21	CTCF	chr6:79498700-79498850	HMEC	breast:	n/a	n/a
22	CTCF	chr6:79519958-79520186	Medullo	brain:	n/a	n/a
23	CTCF	chr6:79498680-79498830	NHEK	skin:	n/a	n/a
24	CTCF	chr6:79519980-79520130	GM12868	blood:	n/a	n/a
25	CTCF	chr6:79519980-79520130	GM12865	blood:	n/a	n/a
26	CTCF	chr6:79520000-79520150	GM12875	blood:	n/a	n/a
27	CTCF	chr6:79498535-79498928	MCF-7	breast:	n/a	n/a
28	CTCF	chr6:79519944-79520191	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr6:79519832-79520320	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:79519990-79520193	GM10266	blood:	n/a	n/a
31	CTCF	chr6:79498673-79498813	NHEK	skin:	n/a	n/a
32	CTCF	chr6:79519980-79520130	RPTEC	kidney:	n/a	n/a
33	CTCF	chr6:79520060-79520210	HCT-116	colon:	n/a	n/a
34	CTCF	chr6:79519841-79520283	A549	lung:	n/a	n/a
35	CTCF	chr6:79498760-79498910	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:79519930-79520149	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr6:79519939-79520198	ProgFib	skin:	n/a	n/a
38	CTCF	chr6:79519920-79520070	HCM	heart:	n/a	n/a
39	CTCF	chr6:79519878-79520264	GM12878	blood:	n/a	n/a
40	CTCF	chr6:79519919-79520186	Fibrobl	skin:	n/a	n/a
41	CTCF	chr6:79498676-79498810	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:79519895-79520173	HepG2	liver:	n/a	n/a
43	CTCF	chr6:79520000-79520150	HMF	breast:	n/a	n/a
44	CTCF	chr6:79520040-79520190	GM12870	blood:	n/a	n/a
45	CTCF	chr6:79520000-79520150	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr6:79513480-79513547	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr6:79518605-79518619	GM19239	blood:	n/a	n/a
48	CTCF	chr6:79519933-79520249	K562	blood:	n/a	n/a
49	CTCF	chr6:79519954-79520161	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:79519952-79520157	GM19239	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:36762385..36763233-chr6:79519693..79520512,2	MCF-7	breast:
2	chr6:79537385..79538965-chr6:79541996..79544293,2	K562	blood:
3	chr6:79522220..79524770-chr6:79527033..79529117,2	MCF-7	breast:
4	chr6:78450229..78450915-chr6:79519607..79520138,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHIP-1	chr6:79522839-79523020	XLOC_005771
2	lnc-PHIP-1	chr6:79519432-79521881	XLOC_005771

No data

Variant related genes	Relation type
ENSG00000229495	TF binding region
ENSG00000229495	chromatin interactions

Extended variants
information (count: 626 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373219284	chr6:79515659-79515660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577998788	chr6:79515711-79515712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537043843	chr6:79515765-79515766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557684948	chr6:79515822-79515823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555074125	chr6:79515851-79515852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183308813	chr6:79515854-79515855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142938546	chr6:79515862-79515863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559537256	chr6:79515901-79515902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573072673	chr6:79515972-79515973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573653781	chr6:79515977-79515978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557851682	chr6:79515992-79515993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189203166	chr6:79516000-79516001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564009383	chr6:79516050-79516051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146134957	chr6:79516056-79516057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199875217	chr6:79516078-79516079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193062683	chr6:79516084-79516085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563225859	chr6:79516097-79516098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182486563	chr6:79516109-79516110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549262502	chr6:79516115-79516116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139982416	chr6:79516123-79516124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116513931	chr6:79516138-79516139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367554786	chr6:79516139-79516140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571649920	chr6:79516150-79516151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202147986	chr6:79516152-79516153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537506621	chr6:79516170-79516171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186762246	chr6:79516186-79516187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567287808	chr6:79516207-79516208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149854651	chr6:79516211-79516212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144660330	chr6:79516235-79516236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148513892	chr6:79516248-79516249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545261805	chr6:79516254-79516255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9448574	chr6:79516301-79516302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577694695	chr6:79516312-79516313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145374665	chr6:79516379-79516380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370430887	chr6:79516395-79516396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374556951	chr6:79516400-79516401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572300387	chr6:79516428-79516429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546025029	chr6:79516429-79516430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191267139	chr6:79516456-79516457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184188741	chr6:79516467-79516468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559678306	chr6:79516519-79516520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147690204	chr6:79516546-79516547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368326786	chr6:79516577-79516578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553810889	chr6:79516580-79516581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551292304	chr6:79516594-79516595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189458930	chr6:79516607-79516608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142478903	chr6:79516609-79516610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184449828	chr6:79516610-79516611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550634502	chr6:79516647-79516648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371926140	chr6:79516662-79516663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79515600-79519200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:79516800-79518600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:79517000-79517600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr6:79518400-79519000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr6:79518600-79518800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:79519000-79521800	Enhancers	HMEC	breast
7	chr6:79519200-79520200	Enhancers	NHEK	skin
8	chr6:79519200-79521400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:79519200-79521800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:79519200-79521800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:79519600-79521400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:79519800-79521200	Enhancers	Liver	Liver
13	chr6:79519800-79521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:79520200-79520600	Flanking Active TSS	NHEK	skin
15	chr6:79520200-79520800	Enhancers	Duodenum Mucosa	Duodenum
16	chr6:79520200-79521000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:79520200-79521200	Enhancers	Osteobl	bone
18	chr6:79520400-79520800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:79520400-79520800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:79520400-79521200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:79520600-79521600	Enhancers	NHEK	skin
22	chr6:79521400-79522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:79521800-79522800	Weak transcription	HMEC	breast
24	chr6:79521800-79527000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:79522800-79523000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:79522800-79523000	Enhancers	HMEC	breast

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