Variant report

Variant	esv1799614
Chromosome Location	chr6:79483130-79526269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:293)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:293 , 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	chr6:79520489-79520812	IMR90	lung:	n/a	n/a
2	CEBPB	chr6:79520350-79520744	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr6:79520313-79520791	MCF-7	breast:	n/a	n/a
4	CEBPB	chr6:79520364-79520709	MCF-7	breast:	n/a	n/a
5	CTCF	chr6:79519960-79520110	HA-sp	spinal cord:	n/a	n/a
6	CTCF	chr6:79519980-79520160	A549	lung:	n/a	n/a
7	CTCF	chr6:79520100-79520250	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chr6:79498673-79498813	NHEK	skin:	n/a	n/a
9	CTCF	chr6:79520000-79520150	HMF	breast:	n/a	n/a
10	CTCF	chr6:79519961-79520159	GM12892	blood:	n/a	n/a
11	CTCF	chr6:79519926-79520194	NHEK	skin:	n/a	n/a
12	CTCF	chr6:79520020-79520170	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr6:79520000-79520150	HAc	cerebellar:	n/a	n/a
14	CTCF	chr6:79520320-79520470	AG04450	lung:	n/a	n/a
15	CTCF	chr6:79520000-79520150	GM06990	blood:	n/a	n/a
16	CTCF	chr6:79519980-79520130	SAEC	small airway:	n/a	n/a
17	CTCF	chr6:79520020-79520170	HFF	foreskin:	n/a	n/a
18	CTCF	chr6:79519964-79520198	HepG2	liver:	n/a	n/a
19	CTCF	chr6:79519980-79520130	HEK293	kidney:	n/a	n/a
20	CTCF	chr6:79520000-79520150	AG04449	skin:	n/a	n/a
21	CTCF	chr6:79520000-79520150	GM12867	blood:	n/a	n/a
22	CTCF	chr6:79520000-79520150	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr6:79519988-79520113	GM12891	blood:	n/a	n/a
24	CTCF	chr6:79519903-79520172	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr6:79519990-79520193	GM10266	blood:	n/a	n/a
26	CTCF	chr6:79519980-79520130	GM12873	blood:	n/a	n/a
27	CTCF	chr6:79520040-79520190	GM12869	blood:	n/a	n/a
28	CTCF	chr6:79498746-79498767	ProgFib	skin:	n/a	n/a
29	CTCF	chr6:79520020-79520170	GM12864	blood:	n/a	n/a
30	CTCF	chr6:79519980-79520130	RPTEC	kidney:	n/a	n/a
31	CTCF	chr6:79519977-79520160	GM19238	blood:	n/a	n/a
32	CTCF	chr6:79519770-79520243	HCT-116	colon:	n/a	n/a
33	CTCF	chr6:79518640-79518645	GM19239	blood:	n/a	n/a
34	CTCF	chr6:79498655-79498835	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:79519922-79520224	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:79520000-79520150	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr6:79520000-79520150	HVMF	connective:	n/a	n/a
38	CTCF	chr6:79519980-79520130	GM12868	blood:	n/a	n/a
39	CTCF	chr6:79519815-79520195	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr6:79520000-79520150	GM12872	blood:	n/a	n/a
41	CTCF	chr6:79520040-79520190	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr6:79519952-79520157	GM19239	blood:	n/a	n/a
43	CTCF	chr6:79520020-79520170	SAEC	small airway:	n/a	n/a
44	CTCF	chr6:79519980-79520130	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr6:79498702-79498861	LNCaP	prostate:	n/a	n/a
46	CTCF	chr6:79520020-79520170	HMEC	breast:	n/a	n/a
47	CTCF	chr6:79519980-79520130	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:79520000-79520150	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr6:79520020-79520170	NB4	blood:	n/a	n/a
50	CTCF	chr6:79520040-79520190	HPF	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:78450229..78450915-chr6:79519607..79520138,2	MCF-7	breast:
2	chr17:36762385..36763233-chr6:79519693..79520512,2	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

Extended variants
information (count: 648 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:648 , 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	rs573395599	chr6:79490803-79490804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538809695	chr6:79490809-79490810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557453386	chr6:79490835-79490836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142478475	chr6:79490860-79490861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577287269	chr6:79490866-79490867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543052230	chr6:79490867-79490868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573530391	chr6:79490907-79490908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533932994	chr6:79490923-79490924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542895748	chr6:79490933-79490934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559343172	chr6:79490953-79490954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9361441	chr6:79490966-79490967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528290017	chr6:79490973-79490974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551571042	chr6:79490988-79490989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565393809	chr6:79491003-79491004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531011528	chr6:79491011-79491012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551021546	chr6:79491034-79491035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116475908	chr6:79491039-79491040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536213264	chr6:79491042-79491043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376224866	chr6:79491055-79491056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117556925	chr6:79491062-79491063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539238196	chr6:79491111-79491112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558713560	chr6:79491112-79491113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375079479	chr6:79491117-79491118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577348663	chr6:79491122-79491123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536748595	chr6:79491135-79491136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35665788	chr6:79491147-79491148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556577113	chr6:79491149-79491150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573588948	chr6:79491178-79491179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182359306	chr6:79491206-79491207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577220675	chr6:79491243-79491244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559618584	chr6:79491260-79491261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187016948	chr6:79491268-79491269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545257466	chr6:79491313-79491314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544322007	chr6:79491351-79491352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146983184	chr6:79491408-79491409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531072980	chr6:79491426-79491427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544728553	chr6:79491440-79491441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561179734	chr6:79491456-79491457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530130395	chr6:79491460-79491461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191051858	chr6:79491464-79491465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531803766	chr6:79491466-79491467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551533201	chr6:79491494-79491495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182117534	chr6:79491521-79491522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377370760	chr6:79491541-79491542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371614366	chr6:79491546-79491547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62424885	chr6:79491575-79491576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552402939	chr6:79491661-79491662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569102135	chr6:79491671-79491672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187077380	chr6:79491685-79491686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138117740	chr6:79491706-79491707	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79490800-79491400	Enhancers	HMEC	breast
2	chr6:79491000-79491400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:79491000-79491400	Enhancers	NHEK	skin
4	chr6:79491400-79493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:79493000-79493200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:79515600-79519200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:79516800-79518600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:79517000-79517600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr6:79518400-79519000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr6:79518600-79518800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:79519000-79521800	Enhancers	HMEC	breast
12	chr6:79519200-79520200	Enhancers	NHEK	skin
13	chr6:79519200-79521400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:79519200-79521800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:79519200-79521800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:79519600-79521400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:79519800-79521200	Enhancers	Liver	Liver
18	chr6:79519800-79521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:79520200-79520600	Flanking Active TSS	NHEK	skin
20	chr6:79520200-79520800	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:79520200-79521000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:79520200-79521200	Enhancers	Osteobl	bone
23	chr6:79520400-79520800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:79520400-79520800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:79520400-79521200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:79520600-79521600	Enhancers	NHEK	skin
27	chr6:79521400-79522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:79521800-79522800	Weak transcription	HMEC	breast
29	chr6:79521800-79527000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:79522800-79523000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:79522800-79523000	Enhancers	HMEC	breast

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