Variant report

Variant	esv1845487
Chromosome Location	chr6:93099906-93306808
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	ARID3A	chr6:93156031-93156313	HepG2	liver:	n/a	n/a
2	BACH1	chr6:93286975-93287516	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:93297134-93298301	Hela-S3	cervix:	n/a	chr6:93297656-93297669 chr6:93297656-93297667 chr6:93297656-93297667 chr6:93298095-93298108 chr6:93297745-93297756
4	CEBPB	chr6:93246609-93246921	HepG2	liver:	n/a	chr6:93246754-93246765
5	CEBPB	chr6:93107378-93107560	A549	lung:	n/a	chr6:93107469-93107480
6	CEBPB	chr6:93217317-93217677	IMR90	lung:	n/a	chr6:93217486-93217497
7	CEBPB	chr6:93232196-93232704	IMR90	lung:	n/a	chr6:93232509-93232520
8	CEBPB	chr6:93208080-93208182	H1-hESC	embryonic stem cell:	n/a	chr6:93208166-93208179 chr6:93208166-93208177 chr6:93208168-93208177 chr6:93208167-93208178 chr6:93208166-93208177 chr6:93208168-93208177 chr6:93208168-93208177 chr6:93208166-93208179 chr6:93208168-93208177
9	CEBPB	chr6:93232345-93232664	K562	blood:	n/a	chr6:93232509-93232520
10	CEBPB	chr6:93154092-93154328	HepG2	liver:	n/a	chr6:93154229-93154240
11	CEBPB	chr6:93299721-93300192	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr6:93208024-93208242	HepG2	liver:	n/a	chr6:93208166-93208179 chr6:93208166-93208177 chr6:93208168-93208177 chr6:93208167-93208178 chr6:93208166-93208177 chr6:93208168-93208177 chr6:93208168-93208177 chr6:93208166-93208179 chr6:93208168-93208177
13	CEBPB	chr6:93275098-93275123	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr6:93232302-93232694	HepG2	liver:	n/a	chr6:93232509-93232520
15	CEBPB	chr6:93222527-93222535	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr6:93284930-93285135	Hela-S3	cervix:	n/a	chr6:93285008-93285021
17	CEBPB	chr6:93102546-93102883	IMR90	lung:	n/a	chr6:93102723-93102734
18	CEBPB	chr6:93248732-93249073	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr6:93178794-93179008	HepG2	liver:	n/a	n/a
20	CEBPB	chr6:93102548-93102901	HepG2	liver:	n/a	chr6:93102723-93102734
21	CEBPB	chr6:93217334-93217656	HepG2	liver:	n/a	chr6:93217486-93217497
22	CEBPB	chr6:93246596-93246869	A549	lung:	n/a	chr6:93246754-93246765
23	CEBPB	chr6:93102607-93102866	H1-hESC	embryonic stem cell:	n/a	chr6:93102723-93102734
24	CEBPB	chr6:93232309-93232662	A549	lung:	n/a	chr6:93232509-93232520
25	CEBPB	chr6:93232331-93232683	Hela-S3	cervix:	n/a	chr6:93232509-93232520
26	CEBPB	chr6:93281889-93282163	HepG2	liver:	n/a	chr6:93282027-93282038 chr6:93281977-93281990 chr6:93282090-93282103
27	CEBPB	chr6:93246602-93246927	IMR90	lung:	n/a	chr6:93246754-93246765
28	CEBPB	chr6:93247894-93248365	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr6:93232337-93232697	H1-hESC	embryonic stem cell:	n/a	chr6:93232509-93232520
30	CEBPB	chr6:93107406-93107650	HepG2	liver:	n/a	chr6:93107469-93107480
31	CEBPB	chr6:93184022-93184315	HepG2	liver:	n/a	chr6:93184178-93184189
32	CEBPB	chr6:93204857-93205358	Hela-S3	cervix:	n/a	chr6:93205016-93205025 chr6:93205014-93205025
33	CEBPB	chr6:93217314-93217632	Hela-S3	cervix:	n/a	chr6:93217486-93217497
34	CEBPB	chr6:93217375-93217646	A549	lung:	n/a	chr6:93217486-93217497
35	CEBPB	chr6:93281911-93282210	IMR90	lung:	n/a	chr6:93282027-93282038 chr6:93281977-93281990 chr6:93282090-93282103
36	CEBPZ	chr6:93156102-93156210	HepG2	liver:	n/a	n/a
37	CTCF	chr6:93143020-93143041	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr6:93232700-93232850	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr6:93179200-93179350	BE2_C	brain:	n/a	n/a
40	CTCF	chr6:93199160-93199310	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr6:93179300-93179450	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr6:93257620-93257770	HFF	foreskin:	n/a	n/a
43	CTCF	chr6:93299660-93299810	GM06990	blood:	n/a	n/a
44	CTCF	chr6:93248010-93248024	GM10266	blood:	n/a	n/a
45	CTCF	chr6:93112382-93112416	Lung_OC	lung:	n/a	n/a
46	CTCF	chr6:93156969-93156999	LNCaP	prostate:	n/a	n/a
47	CTCF	chr6:93261960-93262110	HPF	lung:	n/a	n/a
48	CTCF	chr6:93267480-93267630	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr6:93248020-93248170	RPTEC	kidney:	n/a	n/a
50	CTCF	chr6:93287400-93287550	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:93090182..93092480-chr6:93105991..93108734,2	MCF-7	breast:
2	chr6:93198648..93200949-chr6:93203987..93205670,2	MCF-7	breast:
3	chr5:57537158..57537698-chr6:93136804..93137665,2	MCF-7	breast:
4	chr6:93198648..93200949-chr6:93203987..93205670,2	MCF-7	breast:
5	chr6:93224517..93226588-chr6:93230542..93232211,2	MCF-7	breast:
6	chr17:72831095..72833795-chr6:93124287..93127004,2	MCF-7	breast:
7	chr6:93224517..93226588-chr6:93230542..93232211,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJA10-7	chr6:93104985-93105082	XLOC_005388
2	lnc-EPHA7-2	chr6:93299040-93299050	XLOC_005783
3	lnc-EPHA7-2	chr6:93299496-93299804	XLOC_005783

Variant related genes	Relation type
ENSG00000261038	TF binding region
ENSG00000109066	chromatin interactions
C3orf58	miRNA target sites

Extended variants
information (count: 3463 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3463 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192612152	chr6:93102548-93102549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs537331161	chr6:93102569-93102570	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557434430	chr6:93102682-93102683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577310219	chr6:93102718-93102719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs146770269	chr6:93102730-93102731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542010485	chr6:93102741-93102742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs140335861	chr6:93102765-93102766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541193018	chr6:93102787-93102788	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs185538550	chr6:93102803-93102804	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539382083	chr6:93102808-93102809	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143568723	chr6:93102839-93102840	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs562990707	chr6:93102880-93102881	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2757028	chr6:93102882-93102883	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112118499	chr6:93102903-93102904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528698483	chr6:93102933-93102934	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs140509517	chr6:93102954-93102955	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150393738	chr6:93102975-93102976	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs537796983	chr6:93103012-93103013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373298709	chr6:93103013-93103014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138305906	chr6:93103095-93103096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570871195	chr6:93103102-93103103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539808737	chr6:93103106-93103107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553526369	chr6:93103107-93103108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573315963	chr6:93103110-93103111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574583301	chr6:93103171-93103172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535086626	chr6:93103199-93103200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9345227	chr6:93104996-93104997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs148944576	chr6:93105052-93105053	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs200766554	chr6:93105066-93105067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs9451991	chr6:93105074-93105075	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs71558419	chr6:93118224-93118225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71558420	chr6:93118240-93118241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533266912	chr6:93118274-93118275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558302086	chr6:93118278-93118279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140019397	chr6:93118315-93118316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566488259	chr6:93118337-93118338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186477014	chr6:93118338-93118339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534879660	chr6:93118361-93118362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548676668	chr6:93118391-93118392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145539152	chr6:93118836-93118837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571524128	chr6:93118900-93118901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534099290	chr6:93118911-93118912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377470755	chr6:93118924-93118925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547564027	chr6:93118935-93118936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201625072	chr6:93118936-93118937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113664512	chr6:93118937-93118938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73530013	chr6:93118942-93118943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536542069	chr6:93118965-93118966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556523446	chr6:93119042-93119043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141104445	chr6:93119099-93119100	Enhancers	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
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
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
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93102800-93103200	Enhancers	Fetal Muscle Trunk	muscle
2	chr6:93118200-93118400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:93118800-93119200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:93125000-93126800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:93125200-93126000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:93125400-93125800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:93125400-93126000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:93125400-93126800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:93125400-93126800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:93125600-93127000	Enhancers	Primary T cells from cord blood	blood
11	chr6:93126800-93131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:93127400-93128600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:93130800-93144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:93137400-93137800	Enhancers	Fetal Kidney	kidney
15	chr6:93155800-93156600	Enhancers	HepG2	liver
16	chr6:93164800-93165200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:93165200-93170200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:93169400-93169800	Enhancers	HUVEC	blood vessel
19	chr6:93169400-93170200	Enhancers	HSMMtube	muscle
20	chr6:93169400-93171200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:93170000-93170400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:93170000-93170800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:93170200-93171000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:93170200-93171000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:93170200-93171200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:93173000-93173400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:93182200-93182600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:93182200-93182800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:93182400-93182800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:93182400-93182800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:93182400-93182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:93182800-93183600	Enhancers	HUVEC	blood vessel
33	chr6:93189400-93190200	Enhancers	HUVEC	blood vessel
34	chr6:93189600-93190000	Enhancers	Fetal Heart	heart
35	chr6:93190000-93191400	Weak transcription	Fetal Heart	heart
36	chr6:93191400-93192000	Enhancers	Fetal Heart	heart
37	chr6:93192000-93198000	Weak transcription	Fetal Heart	heart
38	chr6:93198000-93199000	Enhancers	Fetal Heart	heart
39	chr6:93204200-93205000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr6:93204400-93205200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:93205000-93205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:93205000-93206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:93205200-93206200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:93205200-93206200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:93206200-93206400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:93206200-93206600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:93206200-93206600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:93206200-93206600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:93206200-93206600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:93206200-93206600	Enhancers	Ovary	ovary

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