Variant report

Variant	esv2761625
Chromosome Location	chr10:110809519-110977245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:311)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr10:110822004-110822546	GM12878	blood:	n/a	n/a
2	ATF2	chr10:110822054-110822512	GM12878	blood:	n/a	n/a
3	BACH1	chr10:110962081-110962083	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr10:110965722-110965968	GM12878	blood:	n/a	n/a
5	BCL3	chr10:110965656-110966031	GM12878	blood:	n/a	n/a
6	CEBPB	chr10:110841702-110841925	HepG2	liver:	n/a	n/a
7	CEBPB	chr10:110810360-110810672	HepG2	liver:	n/a	chr10:110810481-110810492
8	CEBPB	chr10:110965666-110966667	IMR90	lung:	n/a	n/a
9	CEBPB	chr10:110947314-110947879	IMR90	lung:	n/a	n/a
10	CEBPB	chr10:110951036-110951329	HepG2	liver:	n/a	chr10:110951178-110951189
11	CEBPB	chr10:110903762-110903848	HepG2	liver:	n/a	chr10:110903779-110903792 chr10:110903779-110903790
12	CEBPB	chr10:110835498-110835735	HepG2	liver:	n/a	chr10:110835654-110835663 chr10:110835654-110835663
13	CEBPB	chr10:110887763-110888031	HepG2	liver:	n/a	chr10:110887931-110887942
14	CEBPB	chr10:110963404-110963714	IMR90	lung:	n/a	n/a
15	CEBPB	chr10:110875582-110875736	H1-hESC	embryonic stem cell:	n/a	chr10:110875710-110875723
16	CEBPB	chr10:110943073-110943417	IMR90	lung:	n/a	n/a
17	CEBPB	chr10:110822162-110822463	IMR90	lung:	n/a	n/a
18	CEBPB	chr10:110951009-110951335	IMR90	lung:	n/a	chr10:110951178-110951189
19	CHD2	chr10:110864739-110864742	K562	blood:	n/a	n/a
20	CTCF	chr10:110885960-110886110	HRE	kidney:	n/a	n/a
21	CTCF	chr10:110885969-110886100	Medullo	brain:	n/a	n/a
22	CTCF	chr10:110885817-110886144	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr10:110885900-110886050	HVMF	connective:	n/a	n/a
24	CTCF	chr10:110948740-110948890	GM12873	blood:	n/a	chr10:110948838-110948856
25	CTCF	chr10:110831380-110831530	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr10:110886016-110886042	LNCaP	prostate:	n/a	n/a
27	CTCF	chr10:110837871-110837970	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr10:110859702-110859720	GM10266	blood:	n/a	n/a
29	CTCF	chr10:110885959-110886075	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr10:110845180-110845330	HEK293	kidney:	n/a	n/a
31	CTCF	chr10:110885854-110886193	GM12878	blood:	n/a	n/a
32	CTCF	chr10:110831427-110831535	GM12878	blood:	n/a	n/a
33	CTCF	chr10:110885940-110886090	Caco-2	colon:	n/a	n/a
34	CTCF	chr10:110885940-110886090	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr10:110886000-110886150	HRE	kidney:	n/a	n/a
36	CTCF	chr10:110885940-110886090	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr10:110885940-110886090	AG10803	skin:	n/a	n/a
38	CTCF	chr10:110885940-110886090	BE2_C	brain:	n/a	n/a
39	CTCF	chr10:110885937-110886096	Fibrobl	skin:	n/a	n/a
40	CTCF	chr10:110885980-110886130	HMF	breast:	n/a	n/a
41	CTCF	chr10:110854944-110855057	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr10:110845228-110845333	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:110847783-110847879	LNCaP	prostate:	n/a	n/a
44	CTCF	chr10:110886020-110886170	HAc	cerebellar:	n/a	n/a
45	CTCF	chr10:110885820-110885970	MCF-7	breast:	n/a	n/a
46	CTCF	chr10:110885900-110886050	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr10:110831504-110831540	Medullo	brain:	n/a	n/a
48	CTCF	chr10:110885920-110886070	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr10:110845140-110845290	HepG2	liver:	n/a	n/a
50	CTCF	chr10:110885900-110886050	GM12873	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:110946662-110946712	AG09319	gingival:	n/a
2	chr10:110946662-110946712	Jurkat	blood:	n/a
3	chr10:110946662-110946712	PrEC	prostate:	n/a
4	chr10:110946662-110946712	HAEpiC	amniotic membrane:	n/a
5	chr10:110946662-110946712	HPAEpiC	pulmonary alveolar:	n/a
6	chr10:110946662-110946712	HCT-116	colon:	n/a
7	chr10:110946662-110946712	HUVEC	blood vessel:	n/a
8	chr10:110946662-110946712	HNPCEpiC	eye:	n/a
9	chr10:110946662-110946712	T-47D	breast:	n/a
10	chr10:110946662-110946712	GM12892	blood:	n/a
11	chr10:110946662-110946712	AoSMC	blood vessel:	n/a
12	chr10:110946662-110946712	AG09309	skin:	n/a
13	chr10:110946662-110946712	AG04450	lung:	fetal
14	chr10:110946662-110946712	MCF-7	breast:	n/a
15	chr10:110946662-110946712	NB4	blood:	n/a
16	chr10:110946662-110946712	Caco-2	colon:	n/a
17	chr10:110946662-110946712	LNCaP	prostate:	n/a
18	chr10:110946662-110946712	IMR90	lung:	fetal
19	chr10:110946662-110946712	A549	lung:	n/a
20	chr10:110946662-110946712	GM12891	blood:	n/a
21	chr10:110946662-110946712	H1-hESC	embryonic stem cell:	embryo
22	chr10:110946662-110946712	HepG2	liver:	n/a
23	chr10:110946662-110946712	SAEC	small airway:	n/a
24	chr10:110946662-110946712	K562	blood:	n/a
25	chr10:110946662-110946712	PANC-1	pancreas:	n/a
26	chr10:110946662-110946712	HL-60	blood:	n/a
27	chr10:110946662-110946712	HRE	kidney:	n/a
28	chr10:110946662-110946712	BE2_C	brain:	n/a
29	chr10:110946662-110946712	SK-N-SH_RA	brain:	n/a
30	chr10:110946662-110946712	HCM	heart:	n/a
31	chr10:110946662-110946712	HEK293	kidney:	embryo
32	chr10:110946662-110946712	AG04449	skin:	fetal
33	chr10:110946662-110946712	Hela-S3	cervix:	n/a
34	chr10:110946662-110946712	HRCEpiC	kidney:	n/a
35	chr10:110946662-110946712	HRPEpiC	eye:	n/a
36	chr10:110946662-110946712	ECC-1	luminal epithelium:	n/a
37	chr10:110946662-110946712	NHDF-neo	bronchial:	n/a
38	chr10:110946662-110946712	HEEpiC	esophagus:	n/a
39	chr10:110946662-110946712	GM19239	blood:	n/a
40	chr10:110946662-110946712	MCF10A-Er-Src	breast:	n/a
41	chr10:110946662-110946712	NT2-D1	testis:	n/a
42	chr10:110946662-110946712	ovcar-3	ovarian:	n/a
43	chr10:110946662-110946712	GM12878	blood:	n/a
44	chr10:110946662-110946712	HMEC	breast:	n/a
45	chr10:110946662-110946712	HIPEpiC	eye:	n/a
46	chr10:110946662-110946712	HCPEpiC	choroid plexus:	n/a
47	chr10:110946662-110946712	AG10803	skin:	n/a
48	chr10:110946662-110946712	ProgFib	skin:	n/a
49	chr10:110946662-110946712	NH-A	brain:	n/a
50	chr10:110946662-110946712	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:110947357..110950585-chr10:110952313..110955318,3	K562	blood:
2	chr10:110909632..110912318-chr10:110918760..110920466,2	MCF-7	breast:
3	chr10:110947357..110950585-chr10:110952313..110955318,3	K562	blood:
4	chr10:110909632..110912318-chr10:110918760..110920466,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU5B-6P	TF binding region
RNU5B-6P	CpG island

Extended variants
information (count: 2806 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2806 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377402543	chr10:110823440-110823441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534999667	chr10:110823450-110823451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35084105	chr10:110823459-110823460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34228687	chr10:110823465-110823466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80030473	chr10:110823499-110823500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115701070	chr10:110823526-110823527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145565035	chr10:110823531-110823532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573247091	chr10:110823585-110823586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372912497	chr10:110823606-110823607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184274209	chr10:110823619-110823620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116203808	chr10:110823621-110823622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570453317	chr10:110823753-110823754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12774468	chr10:110823811-110823812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs151294637	chr10:110823826-110823827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572785893	chr10:110823877-110823878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148914213	chr10:110823878-110823879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564700018	chr10:110823939-110823940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376109539	chr10:110823985-110823986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3052596	chr10:110823989-110823990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562194739	chr10:110823990-110823991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550990957	chr10:110823994-110823995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71492074	chr10:110823997-110823998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116598585	chr10:110824404-110824405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558534904	chr10:110824421-110824422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574849882	chr10:110824425-110824426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543952447	chr10:110824437-110824438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554224874	chr10:110824448-110824449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114189532	chr10:110824449-110824450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575310589	chr10:110824458-110824459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543223573	chr10:110824496-110824497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2182519	chr10:110824507-110824508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192588930	chr10:110824517-110824518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184385065	chr10:110824518-110824519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565320129	chr10:110824545-110824546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146303174	chr10:110824546-110824547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74939766	chr10:110824547-110824548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190437403	chr10:110824553-110824554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61868484	chr10:110824563-110824564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139175662	chr10:110824603-110824604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141456449	chr10:110824689-110824690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79914748	chr10:110824690-110824691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12253337	chr10:110824701-110824702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34736192	chr10:110824734-110824735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182020926	chr10:110824759-110824760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184295645	chr10:110824774-110824775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189062562	chr10:110824801-110824802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531901690	chr10:110824836-110824837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554112349	chr10:110824838-110824839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113621442	chr10:110824949-110824950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138266396	chr10:110824963-110824964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
renal hypoplasia	20603712	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	20962326	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:110823400-110824000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr10:110824400-110824800	Enhancers	Fetal Brain Male	brain
3	chr10:110824800-110825600	Weak transcription	Fetal Brain Male	brain
4	chr10:110825600-110826600	Enhancers	Fetal Brain Male	brain
5	chr10:110826600-110827400	Enhancers	Fetal Intestine Large	intestine
6	chr10:110826600-110831000	Weak transcription	Fetal Brain Male	brain
7	chr10:110831000-110831800	Enhancers	Fetal Brain Male	brain
8	chr10:110845200-110845800	ZNF genes & repeats	Pancreas	Pancrea
9	chr10:110845800-110848600	Weak transcription	Pancreas	Pancrea
10	chr10:110847000-110847400	ZNF genes & repeats	Spleen	Spleen
11	chr10:110863000-110863400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr10:110863000-110863600	Enhancers	Fetal Intestine Large	intestine
13	chr10:110863200-110864400	Enhancers	Adipose Nuclei	Adipose
14	chr10:110864400-110865600	Weak transcription	Adipose Nuclei	Adipose
15	chr10:110865600-110866400	Enhancers	Adipose Nuclei	Adipose
16	chr10:110866800-110867400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr10:110867000-110867200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:110867000-110867600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr10:110867200-110867400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr10:110867200-110867600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr10:110867400-110867600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr10:110870400-110871600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr10:110871800-110872400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:110872400-110872600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:110872600-110876800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:110873000-110873200	Enhancers	Colon Smooth Muscle	Colon
27	chr10:110874600-110875600	Enhancers	Rectal Smooth Muscle	rectum
28	chr10:110875000-110875600	Enhancers	Colon Smooth Muscle	Colon
29	chr10:110877400-110877800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr10:110877600-110877800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:110877800-110880200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr10:110882400-110882600	Enhancers	Adipose Nuclei	Adipose
33	chr10:110882600-110885600	Weak transcription	Adipose Nuclei	Adipose
34	chr10:110885600-110886000	Enhancers	Adipose Nuclei	Adipose
35	chr10:110885800-110887000	Enhancers	HSMMtube	muscle
36	chr10:110886200-110886800	Enhancers	HSMM	muscle
37	chr10:110893400-110898600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr10:110897600-110898200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr10:110906800-110907600	Enhancers	Fetal Intestine Large	intestine
40	chr10:110907400-110907800	Enhancers	Fetal Kidney	kidney
41	chr10:110907800-110909600	Weak transcription	Fetal Kidney	kidney
42	chr10:110909200-110910400	Enhancers	Liver	Liver
43	chr10:110909600-110909800	Enhancers	Fetal Kidney	kidney
44	chr10:110909800-110910600	Weak transcription	Fetal Kidney	kidney
45	chr10:110915600-110916000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr10:110916000-110916400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr10:110916400-110917400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr10:110916600-110917000	Enhancers	Fetal Kidney	kidney
49	chr10:110916600-110917200	Enhancers	Placenta	Placenta
50	chr10:110919400-110919600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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