Variant report

Variant	esv3493337
Chromosome Location	chr10:19216667-19377987
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	BACH1	chr10:19317627-19317654	K562	blood:	n/a	n/a
2	BACH1	chr10:19350592-19350642	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr10:19273641-19273802	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr10:19334732-19334932	K562	blood:	n/a	n/a
5	CEBPB	chr10:19366278-19366502	IMR90	lung:	n/a	n/a
6	CEBPB	chr10:19302938-19303346	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr10:19324306-19324620	IMR90	lung:	n/a	chr10:19324446-19324457
8	CEBPB	chr10:19343269-19343582	HepG2	liver:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
9	CEBPB	chr10:19343290-19343513	Hela-S3	cervix:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
10	CEBPB	chr10:19229053-19229096	H1-hESC	embryonic stem cell:	n/a	chr10:19229080-19229091
11	CEBPB	chr10:19257154-19257451	Hela-S3	cervix:	n/a	chr10:19257215-19257228 chr10:19257217-19257226
12	CEBPB	chr10:19257883-19258213	A549	lung:	n/a	chr10:19258053-19258064
13	CEBPB	chr10:19228950-19229265	IMR90	lung:	n/a	chr10:19229115-19229126 chr10:19229080-19229091
14	CEBPB	chr10:19324305-19324617	HepG2	liver:	n/a	chr10:19324446-19324457
15	CEBPB	chr10:19257878-19258083	Hela-S3	cervix:	n/a	chr10:19258053-19258064
16	CEBPB	chr10:19229002-19229405	Hela-S3	cervix:	n/a	chr10:19229115-19229126 chr10:19229080-19229091
17	CEBPB	chr10:19343278-19343480	H1-hESC	embryonic stem cell:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
18	CEBPB	chr10:19305128-19305328	HepG2	liver:	n/a	chr10:19305246-19305257 chr10:19305245-19305258 chr10:19305247-19305256
19	CEBPB	chr10:19270236-19270544	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr10:19228981-19229262	A549	lung:	n/a	chr10:19229115-19229126 chr10:19229080-19229091
21	CEBPB	chr10:19273682-19273761	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr10:19312561-19312761	HepG2	liver:	n/a	chr10:19312657-19312668
23	CEBPB	chr10:19343258-19343579	IMR90	lung:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
24	CEBPB	chr10:19343267-19343547	K562	blood:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
25	CEBPB	chr10:19257884-19258199	IMR90	lung:	n/a	chr10:19258053-19258064
26	CEBPB	chr10:19312540-19312790	A549	lung:	n/a	chr10:19312657-19312668
27	CEBPB	chr10:19335265-19335609	A549	lung:	n/a	chr10:19335427-19335438
28	CEBPB	chr10:19315698-19315792	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr10:19335365-19335448	K562	blood:	n/a	chr10:19335427-19335438
30	CEBPB	chr10:19257884-19258218	HepG2	liver:	n/a	chr10:19258053-19258064
31	CEBPB	chr10:19335311-19335542	IMR90	lung:	n/a	chr10:19335427-19335438
32	CEBPB	chr10:19310277-19310311	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr10:19335289-19335587	HepG2	liver:	n/a	chr10:19335427-19335438
34	CEBPB	chr10:19324305-19324622	A549	lung:	n/a	chr10:19324446-19324457
35	CEBPB	chr10:19312500-19312792	IMR90	lung:	n/a	chr10:19312657-19312668
36	CEBPB	chr10:19228942-19229258	HepG2	liver:	n/a	chr10:19229115-19229126 chr10:19229080-19229091
37	CEBPB	chr10:19343272-19343589	A549	lung:	n/a	chr10:19343414-19343425 chr10:19343371-19343382
38	CEBPB	chr10:19305115-19305360	A549	lung:	n/a	chr10:19305246-19305257 chr10:19305245-19305258 chr10:19305247-19305256
39	CEBPB	chr10:19302924-19303396	IMR90	lung:	n/a	n/a
40	CHD2	chr10:19317648-19317653	K562	blood:	n/a	n/a
41	CTCF	chr10:19359817-19359925	GM20000	blood:	n/a	n/a
42	CTCF	chr10:19317685-19317812	Gliobla	brain:	n/a	n/a
43	CTCF	chr10:19317680-19317830	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr10:19354461-19354507	LNCaP	prostate:	n/a	n/a
45	CTCF	chr10:19317700-19317850	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr10:19317669-19317821	MCF-7	breast:	n/a	n/a
47	CTCF	chr10:19277746-19277832	GM13976	blood:	n/a	n/a
48	CTCF	chr10:19317640-19317790	MCF-7	breast:	n/a	n/a
49	CTCF	chr10:19364277-19364332	GM20000	blood:	n/a	n/a
50	CTCF	chr10:19332054-19332114	Fibrobl	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:19239748-19239798	H1-hESC	embryonic stem cell:	embryo
2	chr10:19239748-19239798	H1-hESC	embryonic stem cell:	embryo
3	chr10:19239748-19239798	HEEpiC	esophagus:	n/a
4	chr10:19352926-19352976	SKMC	muscle:	n/a
5	chr10:19352926-19352976	GM12891	blood:	n/a
6	chr10:19352926-19352976	SK-N-MC	brain:	n/a
7	chr10:19352926-19352976	RPTEC	kidney:	n/a
8	chr10:19239748-19239798	SAEC	small airway:	n/a
9	chr10:19352926-19352976	H1-hESC	embryonic stem cell:	embryo
10	chr10:19352926-19352976	HUVEC	blood vessel:	n/a
11	chr10:19352926-19352976	GM06990	blood:	n/a
12	chr10:19352926-19352976	IMR90	lung:	fetal
13	chr10:19239748-19239798	HIPEpiC	eye:	n/a
14	chr10:19239748-19239798	AoSMC	blood vessel:	n/a
15	chr10:19352926-19352976	Hepatocyte	liver:	n/a
16	chr10:19352926-19352976	HepG2	liver:	n/a
17	chr10:19352926-19352976	AG04450	lung:	fetal
18	chr10:19239748-19239798	ECC-1	luminal epithelium:	n/a
19	chr10:19239748-19239798	AG09309	skin:	n/a
20	chr10:19239748-19239798	SK-N-SH_RA	brain:	n/a
21	chr10:19352926-19352976	HCT-116	colon:	n/a
22	chr10:19352926-19352976	GM19239	blood:	n/a
23	chr10:19239748-19239798	SKMC	muscle:	n/a
24	chr10:19352926-19352976	NT2-D1	testis:	n/a
25	chr10:19239748-19239798	HCT-116	colon:	n/a
26	chr10:19239748-19239798	Caco-2	colon:	n/a
27	chr10:19239748-19239798	T-47D	breast:	n/a
28	chr10:19352926-19352976	HCF	heart:	n/a
29	chr10:19352926-19352976	ovcar-3	ovarian:	n/a
30	chr10:19239748-19239798	PFSK-1	brain:	n/a
31	chr10:19352926-19352976	HRCEpiC	kidney:	n/a
32	chr10:19352926-19352976	CMK	blood:	n/a
33	chr10:19239748-19239798	GM12878	blood:	n/a
34	chr10:19352926-19352976	PANC-1	pancreas:	n/a
35	chr10:19239748-19239798	CMK	blood:	n/a
36	chr10:19352926-19352976	HCM	heart:	n/a
37	chr10:19352926-19352976	Hela-S3	cervix:	n/a
38	chr10:19352926-19352976	NHBE	bronchial:	n/a
39	chr10:19352926-19352976	MCF-7	breast:	n/a
40	chr10:19352926-19352976	AG04449	skin:	fetal
41	chr10:19239748-19239798	NHBE	bronchial:	n/a
42	chr10:19239748-19239798	HNPCEpiC	eye:	n/a
43	chr10:19352926-19352976	U87	brain:	n/a
44	chr10:19352926-19352976	HRPEpiC	eye:	n/a
45	chr10:19239748-19239798	PANC-1	pancreas:	n/a
46	chr10:19239748-19239798	HRPEpiC	eye:	n/a
47	chr10:19239748-19239798	GM12891	blood:	n/a
48	chr10:19239748-19239798	HCPEpiC	choroid plexus:	n/a
49	chr10:19352926-19352976	MCF10A-Er-Src	breast:	n/a
50	chr10:19239748-19239798	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:19369325..19371479-chr10:19375493..19377980,2	K562	blood:
2	chr10:19239311..19240811-chr3:183545007..183546708,2	MCF-7	breast:
3	chr10:19231508..19233378-chr10:19238070..19240382,2	K562	blood:
4	chr10:19231508..19233378-chr10:19238070..19240382,2	K562	blood:
5	chr10:19373201..19375040-chr10:19394247..19396869,2	K562	blood:
6	chr10:19369325..19371479-chr10:19375493..19377980,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL5B-3	chr10:19219126-19219164	XLOC_008407
2	lnc-ARL5B-3	chr10:19219372-19219643	XLOC_008407
3	lnc-C10orf112-2	chr10:19340885-19341099	NONHSAT011658
4	lnc-ARL5B-7	chr10:19229430-19229882	NONHSAT011657
5	lnc-C10orf112-2	chr10:19340384-19340566	NONHSAT011658

Variant related genes	Relation type
ENSG00000234813	TF binding region
UBE2V2P1	TF binding region
ENSG00000234813	CpG island
UBE2V2P1	CpG island
HMGA2	miRNA target sites

Extended variants
information (count: 3847 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:3847 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1538464	chr10:19219130-19219131	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116908282	chr10:19219422-19219423	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs562489849	chr10:19219423-19219424	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs570876794	chr10:19219461-19219462	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs182334824	chr10:19219463-19219464	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs146937126	chr10:19219470-19219471	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs78347341	chr10:19219509-19219510	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs568443917	chr10:19219510-19219511	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs535873723	chr10:19219524-19219525	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs80144751	chr10:19219532-19219533	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs566255070	chr10:19219543-19219544	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs533025538	chr10:19219561-19219562	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs4326693	chr10:19219565-19219566	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566601348	chr10:19219610-19219611	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs576616701	chr10:19219686-19219687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543095516	chr10:19219739-19219740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111627971	chr10:19219778-19219779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528683240	chr10:19219788-19219789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4255444	chr10:19219814-19219815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4619042	chr10:19219840-19219841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4633353	chr10:19219913-19219914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533078762	chr10:19219933-19219934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556900847	chr10:19220015-19220016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1538461	chr10:19220096-19220097	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563324302	chr10:19220106-19220107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187585060	chr10:19220125-19220126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74803387	chr10:19220146-19220147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115163929	chr10:19220170-19220171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1538462	chr10:19220172-19220173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557826724	chr10:19220271-19220272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547480178	chr10:19220272-19220273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376788455	chr10:19220305-19220306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs137966564	chr10:19220315-19220316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117502755	chr10:19220323-19220324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142078947	chr10:19220368-19220369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569891488	chr10:19220383-19220384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113705619	chr10:19220394-19220395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1538463	chr10:19220399-19220400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192400945	chr10:19220451-19220452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373624850	chr10:19220452-19220453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533948200	chr10:19220482-19220483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555274750	chr10:19220517-19220518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1416462	chr10:19220555-19220556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs377287716	chr10:19220565-19220566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544534327	chr10:19220570-19220571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183799160	chr10:19220609-19220610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145905425	chr10:19220624-19220625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs118028218	chr10:19220631-19220632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544954282	chr10:19220648-19220649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1416463	chr10:19220680-19220681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19219400-19221000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:19238800-19239400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr10:19240000-19240200	Enhancers	Placenta	Placenta
4	chr10:19240200-19241000	Active TSS	Placenta	Placenta
5	chr10:19243400-19244600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:19243600-19244200	Enhancers	Adipose Nuclei	Adipose
7	chr10:19244000-19244600	Enhancers	Fetal Lung	lung
8	chr10:19244600-19245200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:19244600-19246000	Weak transcription	Fetal Lung	lung
10	chr10:19245800-19246000	Enhancers	Adipose Nuclei	Adipose
11	chr10:19246000-19246200	Enhancers	Fetal Lung	lung
12	chr10:19247000-19247200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:19254200-19254400	Enhancers	Fetal Lung	lung
14	chr10:19255600-19256000	Enhancers	Fetal Intestine Small	intestine
15	chr10:19256000-19256400	Weak transcription	Fetal Intestine Small	intestine
16	chr10:19256400-19256600	Enhancers	Fetal Intestine Small	intestine
17	chr10:19256400-19257200	Enhancers	Hela-S3	cervix
18	chr10:19256600-19257800	Weak transcription	Fetal Intestine Small	intestine
19	chr10:19256600-19258200	Enhancers	Fetal Intestine Large	intestine
20	chr10:19257800-19258000	Enhancers	Fetal Intestine Small	intestine
21	chr10:19264400-19265400	Enhancers	Fetal Intestine Small	intestine
22	chr10:19264400-19268400	Enhancers	Fetal Intestine Large	intestine
23	chr10:19264600-19265400	Enhancers	Duodenum Mucosa	Duodenum
24	chr10:19265400-19266200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr10:19265400-19266200	Weak transcription	Fetal Intestine Small	intestine
26	chr10:19266200-19266400	Enhancers	Duodenum Mucosa	Duodenum
27	chr10:19266200-19267800	Enhancers	Fetal Intestine Small	intestine
28	chr10:19266400-19267000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:19267000-19267200	Enhancers	Duodenum Mucosa	Duodenum
30	chr10:19267800-19273200	Weak transcription	Fetal Intestine Small	intestine
31	chr10:19268400-19268800	Weak transcription	Fetal Intestine Large	intestine
32	chr10:19268800-19269000	Enhancers	Fetal Intestine Large	intestine
33	chr10:19268800-19269200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr10:19268800-19269200	Enhancers	Fetal Lung	lung
35	chr10:19269000-19273200	Weak transcription	Fetal Intestine Large	intestine
36	chr10:19269200-19273400	Weak transcription	Fetal Lung	lung
37	chr10:19273200-19273600	Enhancers	Fetal Intestine Large	intestine
38	chr10:19273200-19273800	Enhancers	Fetal Intestine Small	intestine
39	chr10:19273400-19273600	Enhancers	Fetal Lung	lung
40	chr10:19273400-19273800	Enhancers	Hela-S3	cervix
41	chr10:19273600-19274000	Weak transcription	Fetal Lung	lung
42	chr10:19274000-19274400	Enhancers	Fetal Lung	lung
43	chr10:19290400-19290800	Enhancers	Hela-S3	cervix
44	chr10:19296000-19296400	Enhancers	Placenta	Placenta
45	chr10:19302600-19303000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr10:19302800-19303400	Enhancers	NH-A	brain
47	chr10:19303800-19304000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:19303800-19304000	Enhancers	Placenta	Placenta
49	chr10:19304000-19309400	Weak transcription	Placenta	Placenta
50	chr10:19306400-19306600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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