Variant report

Variant	esv33879
Chromosome Location	chr6:78383851-78440074
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	chr6:78387746-78388115	IMR90	lung:	n/a	chr6:78387921-78387930 chr6:78387919-78387930 chr6:78387919-78387932 chr6:78387921-78387930 chr6:78387921-78387930 chr6:78387916-78387933
2	CEBPB	chr6:78387745-78388103	HepG2	liver:	n/a	chr6:78387921-78387930 chr6:78387919-78387930 chr6:78387919-78387932 chr6:78387921-78387930 chr6:78387921-78387930 chr6:78387916-78387933
3	CEBPB	chr6:78402763-78403015	HepG2	liver:	n/a	chr6:78402884-78402895 chr6:78402886-78402897 chr6:78402886-78402895
4	CEBPB	chr6:78387739-78388113	H1-hESC	embryonic stem cell:	n/a	chr6:78387921-78387930 chr6:78387919-78387930 chr6:78387919-78387932 chr6:78387921-78387930 chr6:78387921-78387930 chr6:78387916-78387933
5	CEBPB	chr6:78387752-78388123	K562	blood:	n/a	chr6:78387921-78387930 chr6:78387919-78387930 chr6:78387919-78387932 chr6:78387921-78387930 chr6:78387921-78387930 chr6:78387916-78387933
6	CEBPB	chr6:78387761-78388091	A549	lung:	n/a	chr6:78387921-78387930 chr6:78387919-78387930 chr6:78387919-78387932 chr6:78387921-78387930 chr6:78387921-78387930 chr6:78387916-78387933
7	CEBPB	chr6:78400421-78400492	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr6:78387768-78388109	MCF-7	breast:	n/a	chr6:78387921-78387930 chr6:78387919-78387930 chr6:78387919-78387932 chr6:78387921-78387930 chr6:78387921-78387930 chr6:78387916-78387933
9	CEBPB	chr6:78387750-78388121	Hela-S3	cervix:	n/a	chr6:78387921-78387930 chr6:78387919-78387930 chr6:78387919-78387932 chr6:78387921-78387930 chr6:78387921-78387930 chr6:78387916-78387933
10	CTCF	chr6:78417451-78417588	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr6:78439757-78439796	GM20000	blood:	n/a	n/a
12	CTCF	chr6:78386151-78386185	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:78417386-78417717	HepG2	liver:	n/a	n/a
14	CTCF	chr6:78410206-78410448	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:78417509-78417513	HepG2	liver:	n/a	n/a
16	CTCF	chr6:78417400-78417550	HepG2	liver:	n/a	n/a
17	CTCF	chr6:78417400-78417550	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr6:78417227-78417775	MCF-7	breast:	n/a	n/a
19	CTCF	chr6:78417420-78417570	Caco-2	colon:	n/a	n/a
20	CTCF	chr6:78417434-78417593	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:78410227-78410385	T-47D	breast:	n/a	n/a
22	CTCF	chr6:78434023-78434417	K562	blood:	n/a	n/a
23	CTCF	chr6:78410300-78410450	HepG2	liver:	n/a	n/a
24	CTCF	chr6:78417404-78417582	HepG2	liver:	n/a	n/a
25	CTCF	chr6:78417343-78417690	GM12878	blood:	n/a	n/a
26	CTCF	chr6:78410260-78410410	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:78417460-78417610	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr6:78417520-78417670	HepG2	liver:	n/a	n/a
29	CTCF	chr6:78409760-78409910	HEK293	kidney:	n/a	n/a
30	CTCF	chr6:78417291-78417616	HCT-116	colon:	n/a	n/a
31	CTCF	chr6:78434087-78434380	K562	blood:	n/a	n/a
32	CTCF	chr6:78410296-78410395	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr6:78410172-78410456	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:78410206-78410479	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:78410306-78410374	LNCaP	prostate:	n/a	n/a
36	CTCF	chr6:78417400-78417550	BE2_C	brain:	n/a	n/a
37	CTCF	chr6:78417420-78417570	HCT-116	colon:	n/a	n/a
38	CTCF	chr6:78417418-78417624	MCF-7	breast:	n/a	n/a
39	CTCF	chr6:78417460-78417610	HEK293	kidney:	n/a	n/a
40	CTCF	chr6:78417379-78417621	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr6:78424560-78424710	NHLF	lung:	n/a	n/a
42	CTCF	chr6:78417359-78417652	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr6:78410180-78410330	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:78417261-78417730	HCT-116	colon:	n/a	n/a
45	CTCF	chr6:78417320-78417470	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:78417433-78417620	MCF-7	breast:	n/a	n/a
47	CTCF	chr6:78410186-78410469	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:78432437-78432497	GM10248	blood:	n/a	n/a
49	CTCF	chr6:78410261-78410448	LNCaP	prostate:	n/a	n/a
50	CTCF	chr6:78417433-78417613	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:78409901..78411994-chr6:78412184..78414411,2	MCF-7	breast:
2	chr6:78409901..78411994-chr6:78412184..78414411,2	MCF-7	breast:
3	chr6:78357150..78359352-chr6:78388533..78390499,2	K562	blood:
4	chr6:78175755..78176369-chr6:78410019..78410778,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRAK1BP1-5	chr6:78419459-78419528	l_3208_chr6:78417002-78689824_testes
2	lnc-IRAK1BP1-2	chr6:78400542-78400620	ENSG00000214481
3	lnc-IRAK1BP1-5	chr6:78417003-78417143	l_3208_chr6:78417002-78689824_testes

Variant related genes	Relation type
MEI4	TF binding region

Extended variants
information (count: 639 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:639 , 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	rs386702904	chr6:78383872-78383873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183741721	chr6:78385210-78385211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71758588	chr6:78385250-78385251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75436399	chr6:78385263-78385264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9343639	chr6:78385264-78385265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370392930	chr6:78385265-78385266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77933651	chr6:78385272-78385273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13194318	chr6:78385303-78385304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544470011	chr6:78385365-78385366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561492886	chr6:78385371-78385372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111486150	chr6:78385376-78385377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530237836	chr6:78385403-78385404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570840935	chr6:78385411-78385412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112244987	chr6:78385433-78385434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560639468	chr6:78385448-78385449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528064162	chr6:78385450-78385451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115018149	chr6:78385461-78385462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181593679	chr6:78385466-78385467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138917523	chr6:78385518-78385519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558744276	chr6:78385572-78385573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs118169896	chr6:78385576-78385577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149405179	chr6:78385577-78385578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186315318	chr6:78385593-78385594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190255165	chr6:78385631-78385632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553214853	chr6:78385742-78385743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117096457	chr6:78385756-78385757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28458975	chr6:78385770-78385771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533704943	chr6:78385800-78385801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549260285	chr6:78397817-78397818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562909053	chr6:78397819-78397820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528878427	chr6:78397839-78397840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35096173	chr6:78397871-78397872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113409166	chr6:78397971-78397972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141196144	chr6:78397982-78397983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12192385	chr6:78398048-78398049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146937308	chr6:78398063-78398064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137886087	chr6:78398111-78398112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551331143	chr6:78398120-78398121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571419303	chr6:78398156-78398157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143769558	chr6:78398205-78398206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557316703	chr6:78398230-78398231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143180465	chr6:78398239-78398240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186955761	chr6:78398247-78398248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191275120	chr6:78398343-78398344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553495657	chr6:78398353-78398354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560815010	chr6:78398419-78398420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182699328	chr6:78398440-78398441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9448147	chr6:78398509-78398510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558844693	chr6:78398547-78398548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549120350	chr6:78398564-78398565	Enhancers	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
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
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78383200-78384000	Enhancers	Fetal Intestine Large	intestine
2	chr6:78383600-78384000	Enhancers	Stomach Mucosa	stomach
3	chr6:78385200-78385800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:78397800-78398600	Enhancers	Liver	Liver
5	chr6:78408600-78409800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:78408600-78410200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:78409800-78410600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr6:78410200-78410400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr6:78410200-78410400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:78410200-78410800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr6:78410200-78411200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr6:78410400-78413600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:78410400-78413600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:78410600-78412600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:78410800-78412800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:78411200-78412600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:78411800-78415000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:78412200-78414800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:78412200-78414800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:78412600-78414200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:78412600-78414400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:78412800-78413000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:78413000-78413600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:78413000-78414800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:78413400-78414600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:78413600-78413800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:78413600-78413800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:78413600-78414000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:78413800-78414600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:78414000-78415200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:78414600-78414800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr6:78415200-78415400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr6:78424400-78424800	Enhancers	Gastric	stomach
34	chr6:78425600-78426600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr6:78425800-78426200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:78425800-78426400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:78425800-78426400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:78425800-78426400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:78425800-78426800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr6:78425800-78426800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:78425800-78426800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:78426000-78426600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:78426000-78426800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:78426200-78426600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr6:78436000-78436400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr6:78436000-78436600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:78436000-78436600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:78436000-78436600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr6:78436200-78437000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:78436200-78437000	Enhancers	HUES48 Cell Line	embryonic stem cell

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