Variant report

Variant	esv3398393
Chromosome Location	chr6:92058939-92103471
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	chr6:92094246-92094496	HepG2	liver:	n/a	chr6:92094368-92094381 chr6:92094368-92094381 chr6:92094348-92094361 chr6:92094368-92094381 chr6:92094369-92094380
2	CEBPB	chr6:92062565-92062924	Hela-S3	cervix:	n/a	chr6:92062741-92062754 chr6:92062741-92062754
3	CEBPB	chr6:92093364-92093602	IMR90	lung:	n/a	chr6:92093458-92093471
4	CEBPB	chr6:92062590-92062900	IMR90	lung:	n/a	chr6:92062741-92062754 chr6:92062741-92062754
5	CTCF	chr6:92097460-92097610	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr6:92097520-92097670	NB4	blood:	n/a	n/a
7	CTCF	chr6:92097480-92097684	HepG2	liver:	n/a	n/a
8	CTCF	chr6:92097537-92097646	MCF-7	breast:	n/a	n/a
9	CTCF	chr6:92060748-92060801	Medullo	brain:	n/a	n/a
10	CTCF	chr6:92097500-92097650	GM12869	blood:	n/a	n/a
11	CTCF	chr6:92097620-92097770	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:92097417-92097714	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr6:92097499-92097609	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr6:92097480-92097630	GM12865	blood:	n/a	n/a
15	CTCF	chr6:92097340-92097490	GM06990	blood:	n/a	n/a
16	CTCF	chr6:92097521-92097606	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:92097520-92097670	HEK293	kidney:	n/a	n/a
18	CTCF	chr6:92097540-92097674	HepG2	liver:	n/a	n/a
19	CTCF	chr6:92097420-92097570	RPTEC	kidney:	n/a	n/a
20	CTCF	chr6:92097451-92097696	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr6:92097687-92097704	IMR90	lung:	n/a	n/a
22	CTCF	chr6:92097540-92097690	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr6:92097500-92097650	RPTEC	kidney:	n/a	n/a
24	CTCF	chr6:92097518-92097633	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:92097520-92097670	HepG2	liver:	n/a	n/a
26	CTCF	chr6:92090036-92090063	Lung_OC	lung:	n/a	n/a
27	CTCF	chr6:92097540-92097690	GM12872	blood:	n/a	n/a
28	CTCF	chr6:92097371-92097802	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr6:92097440-92097590	GM12872	blood:	n/a	n/a
30	EBF1	chr6:92095688-92095888	GM12878	blood:	n/a	chr6:92095833-92095844
31	ELF1	chr6:92086231-92086712	MCF-7	breast:	n/a	n/a
32	ELF1	chr6:92086481-92086762	GM12878	blood:	n/a	n/a
33	FOS	chr6:92062655-92062882	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr6:92061311-92061481	MCF10A-Er-Src	breast:	n/a	chr6:92061359-92061368 chr6:92061359-92061366
35	FOS	chr6:92062682-92062810	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:92062585-92062799	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr6:92061219-92061419	MCF10A-Er-Src	breast:	n/a	chr6:92061359-92061368 chr6:92061359-92061366
38	FOS	chr6:92061293-92061494	MCF10A-Er-Src	breast:	n/a	chr6:92061359-92061368 chr6:92061359-92061366
39	GATA3	chr6:92091254-92091839	MCF-7	breast:	n/a	n/a
40	GATA3	chr6:92091228-92091545	MCF-7	breast:	n/a	n/a
41	JUND	chr6:92092045-92092049	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAFF	chr6:92067060-92067330	HepG2	liver:	n/a	chr6:92067184-92067202
43	MAFF	chr6:92093034-92093281	HepG2	liver:	n/a	chr6:92093104-92093122
44	MAFF	chr6:92085785-92086008	HepG2	liver:	n/a	chr6:92085903-92085921
45	MAFF	chr6:92070055-92070178	HepG2	liver:	n/a	n/a
46	MAFK	chr6:92095286-92095361	HepG2	liver:	n/a	chr6:92095306-92095321
47	MAFK	chr6:92070110-92070124	HepG2	liver:	n/a	n/a
48	MAFK	chr6:92092961-92093271	IMR90	lung:	n/a	chr6:92093106-92093121
49	MAFK	chr6:92092967-92093281	HepG2	liver:	n/a	chr6:92093106-92093121
50	MAFK	chr6:92067019-92067326	HepG2	liver:	n/a	chr6:92067189-92067200 chr6:92067190-92067201 chr6:92067189-92067200 chr6:92067190-92067201 chr6:92067185-92067200 chr6:92067185-92067201 chr6:92067188-92067202

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30582867..30584827-chr6:92085205..92087278,2	MCF-7	breast:
2	chr6:92055587..92058216-chr6:92087583..92089845,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP3K7-1	chr6:92101922-92102045	XLOC_005782
2	lnc-MAP3K7-1	chr6:92102633-92102718	XLOC_005782
3	lnc-MAP3K7-1	chr6:92100031-92100262	XLOC_005782

Variant related genes	Relation type
ENSG00000224605	TF binding region
ENSG00000222894	chromatin interactions

Extended variants
information (count: 383 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374822647	chr6:92061456-92061457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191950984	chr6:92061467-92061468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571290454	chr6:92061476-92061477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368946747	chr6:92061488-92061489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147926027	chr6:92061527-92061528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78999122	chr6:92061538-92061539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573955356	chr6:92061616-92061617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543309841	chr6:92061700-92061701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9353824	chr6:92061701-92061702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544542343	chr6:92061748-92061749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147120457	chr6:92061749-92061750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369726354	chr6:92061790-92061791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543959774	chr6:92061808-92061809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564200433	chr6:92061823-92061824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532956151	chr6:92061843-92061844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148155105	chr6:92061853-92061854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540270425	chr6:92061882-92061883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560197581	chr6:92061889-92061890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529152615	chr6:92061903-92061904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549278480	chr6:92061904-92061905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184419937	chr6:92061932-92061933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189493755	chr6:92061933-92061934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34029037	chr6:92061962-92061963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551561125	chr6:92061963-92061964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571448803	chr6:92061966-92061967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534038741	chr6:92062041-92062042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553704236	chr6:92062058-92062059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58565535	chr6:92062130-92062131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536513726	chr6:92062150-92062151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7768509	chr6:92062172-92062173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576541166	chr6:92062174-92062175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140719716	chr6:92062190-92062191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192986601	chr6:92062229-92062230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564342140	chr6:92062239-92062240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577769879	chr6:92062275-92062276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540331655	chr6:92062276-92062277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560160517	chr6:92062281-92062282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184314652	chr6:92062344-92062345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542542252	chr6:92062365-92062366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562828198	chr6:92062369-92062370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531401542	chr6:92062391-92062392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532079160	chr6:92062536-92062537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551122930	chr6:92062577-92062578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532655765	chr6:92062578-92062579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6911257	chr6:92062606-92062607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113199726	chr6:92062635-92062636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527753091	chr6:92062674-92062675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547501314	chr6:92062677-92062678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7749168	chr6:92062706-92062707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569122606	chr6:92062730-92062731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92061400-92062800	Enhancers	Fetal Lung	lung
2	chr6:92061600-92061800	Enhancers	Fetal Stomach	stomach
3	chr6:92061800-92064200	Weak transcription	Fetal Stomach	stomach
4	chr6:92062600-92063000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:92064200-92065000	Enhancers	Fetal Stomach	stomach
6	chr6:92084200-92086800	Enhancers	Stomach Mucosa	stomach
7	chr6:92084400-92085000	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:92084600-92084800	Enhancers	Gastric	stomach
9	chr6:92085000-92085800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:92085000-92086200	Weak transcription	Gastric	stomach
11	chr6:92085800-92086600	Enhancers	Duodenum Mucosa	Duodenum
12	chr6:92086200-92086800	Enhancers	Gastric	stomach
13	chr6:92086400-92087200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:92086600-92087000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:92086600-92087000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:92087200-92088600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:92088800-92089000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:92088800-92089400	Enhancers	Brain Germinal Matrix	brain
19	chr6:92095400-92095600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:92095800-92096800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:92096800-92097800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:92097000-92097600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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