Variant report

Variant	esv2759833
Chromosome Location	chr11:63044992-63126854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:219)
CpG islands
(count:307)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:219 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:63057050-63057851	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:63058059-63058071	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:63048505-63048725	HepG2	liver:	n/a	n/a
4	ATF1	chr11:63094842-63094868	K562	blood:	n/a	n/a
5	CEBPB	chr11:63089047-63089257	A549	lung:	n/a	chr11:63089164-63089175
6	CEBPB	chr11:63070914-63071095	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:63050144-63050310	HepG2	liver:	n/a	chr11:63050171-63050182
8	CEBPB	chr11:63089035-63089313	HepG2	liver:	n/a	chr11:63089164-63089175
9	CTCF	chr11:63044940-63045090	GM12801	blood:	n/a	n/a
10	CTCF	chr11:63044960-63045110	GM06990	blood:	n/a	n/a
11	CTCF	chr11:63044940-63045090	SAEC	small airway:	n/a	n/a
12	CTCF	chr11:63044980-63045130	HL-60	blood:	n/a	n/a
13	CTCF	chr11:63044780-63045201	K562	blood:	n/a	n/a
14	CTCF	chr11:63044980-63045130	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr11:63044920-63045070	Caco-2	colon:	n/a	n/a
16	CTCF	chr11:63045280-63045430	A549	lung:	n/a	n/a
17	CTCF	chr11:63044960-63045110	GM12869	blood:	n/a	n/a
18	CTCF	chr11:63044826-63045165	A549	lung:	n/a	n/a
19	CTCF	chr11:63104957-63105200	A549	lung:	n/a	chr11:63105116-63105124
20	CTCF	chr11:63044920-63045070	GM12872	blood:	n/a	n/a
21	CTCF	chr11:63044960-63045250	Caco-2	colon:	n/a	n/a
22	CTCF	chr11:63044920-63045070	GM12871	blood:	n/a	n/a
23	CTCF	chr11:63044940-63045090	HepG2	liver:	n/a	n/a
24	CTCF	chr11:63044920-63045070	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr11:63044715-63045330	A549	lung:	n/a	n/a
26	CTCF	chr11:63110820-63110970	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:63110758-63110954	K562	blood:	n/a	n/a
28	CTCF	chr11:63044960-63045110	GM12875	blood:	n/a	n/a
29	CTCF	chr11:63044980-63045130	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:63044956-63045073	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr11:63044980-63045130	GM12878	blood:	n/a	n/a
32	CTCF	chr11:63044793-63045176	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr11:63044893-63045124	HepG2	liver:	n/a	n/a
34	CTCF	chr11:63044960-63045110	GM12867	blood:	n/a	n/a
35	CTCF	chr11:63045060-63045210	HAc	cerebellar:	n/a	n/a
36	CTCF	chr11:63044789-63045286	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:63044900-63045050	HCFaa	heart:	n/a	n/a
38	CTCF	chr11:63053351-63053387	GM10266	blood:	n/a	n/a
39	CTCF	chr11:63044932-63045109	GM13977	blood:	n/a	n/a
40	CTCF	chr11:63044900-63045143	MCF-7	breast:	n/a	n/a
41	CTCF	chr11:63044920-63045070	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:63044880-63045030	HAc	cerebellar:	n/a	n/a
43	CTCF	chr11:63044940-63045090	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr11:63044846-63045157	K562	blood:	n/a	n/a
45	CTCF	chr11:63044940-63045090	GM12873	blood:	n/a	n/a
46	CTCF	chr11:63044967-63045061	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr11:63044980-63045130	HRE	kidney:	n/a	n/a
48	CTCF	chr11:63044940-63045090	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr11:63044880-63045030	GM12866	blood:	n/a	n/a
50	CTCF	chr11:63044900-63045050	HPAF	blood vessel:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63057478-63057528	K562	blood:	n/a
2	chr11:63057478-63057528	PrEC	prostate:	n/a
3	chr11:63057478-63057528	K562	blood:	n/a
4	chr11:63057478-63057528	PrEC	prostate:	n/a
5	chr11:63066471-63066521	Jurkat	blood:	n/a
6	chr11:63080490-63080540	AG04450	lung:	fetal
7	chr11:63057478-63057528	IMR90	lung:	fetal
8	chr11:63057592-63057642	HAEpiC	amniotic membrane:	n/a
9	chr11:63066471-63066521	ProgFib	skin:	n/a
10	chr11:63080490-63080540	HCF	heart:	n/a
11	chr11:63080490-63080540	HNPCEpiC	eye:	n/a
12	chr11:63080472-63080522	PFSK-1	brain:	n/a
13	chr11:63080490-63080540	ovcar-3	ovarian:	n/a
14	chr11:63080490-63080540	MCF10A-Er-Src	breast:	n/a
15	chr11:63080472-63080522	T-47D	breast:	n/a
16	chr11:63057478-63057528	Hepatocyte	liver:	n/a
17	chr11:63066471-63066521	LNCaP	prostate:	n/a
18	chr11:63057592-63057642	SAEC	small airway:	n/a
19	chr11:63080472-63080522	AG10803	skin:	n/a
20	chr11:63057592-63057642	NT2-D1	testis:	n/a
21	chr11:63080472-63080522	HL-60	blood:	n/a
22	chr11:63057592-63057642	HNPCEpiC	eye:	n/a
23	chr11:63057592-63057642	Hepatocyte	liver:	n/a
24	chr11:63080490-63080540	A549	lung:	n/a
25	chr11:63080490-63080540	H1-hESC	embryonic stem cell:	embryo
26	chr11:63057592-63057642	AG04450	lung:	fetal
27	chr11:63057592-63057642	Caco-2	colon:	n/a
28	chr11:63057478-63057528	SK-N-SH	brain:	n/a
29	chr11:63080472-63080522	HCT-116	colon:	n/a
30	chr11:63080472-63080522	ProgFib	skin:	n/a
31	chr11:63066471-63066521	NHDF-neo	bronchial:	n/a
32	chr11:63057478-63057528	GM19239	blood:	n/a
33	chr11:63057592-63057642	K562	blood:	n/a
34	chr11:63057592-63057642	HCF	heart:	n/a
35	chr11:63080472-63080522	NT2-D1	testis:	n/a
36	chr11:63057592-63057642	SK-N-SH_RA	brain:	n/a
37	chr11:63066471-63066521	PFSK-1	brain:	n/a
38	chr11:63066471-63066521	SAEC	small airway:	n/a
39	chr11:63080490-63080540	AG10803	skin:	n/a
40	chr11:63057592-63057642	AG10803	skin:	n/a
41	chr11:63080490-63080540	MCF-7	breast:	n/a
42	chr11:63057592-63057642	ovcar-3	ovarian:	n/a
43	chr11:63080472-63080522	HEK293	kidney:	embryo
44	chr11:63080472-63080522	Caco-2	colon:	n/a
45	chr11:63080472-63080522	MCF10A-Er-Src	breast:	n/a
46	chr11:63066471-63066521	ECC-1	luminal epithelium:	n/a
47	chr11:63066471-63066521	AG04449	skin:	fetal
48	chr11:63057478-63057528	PANC-1	pancreas:	n/a
49	chr11:63066471-63066521	BJ	skin:	n/a
50	chr11:63080472-63080522	H1-hESC	embryonic stem cell:	embryo

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63042850..63045277-chr11:63045866..63048411,2	MCF-7	breast:
2	chr11:63065508..63067181-chr11:63068021..63070968,2	MCF-7	breast:
3	chr11:63044561..63045230-chr11:63246286..63246902,2	MCF-7	breast:
4	chr11:63057865..63060126-chr11:63074539..63077166,2	MCF-7	breast:
5	chr11:63044723..63045242-chr11:63275245..63276140,2	MCF-7	breast:
6	chr11:63065508..63067181-chr11:63068021..63070968,2	MCF-7	breast:
7	chr11:63103438..63104964-chr14:78144218..78145718,2	MCF-7	breast:
8	chr11:63057865..63060126-chr11:63074539..63077166,2	MCF-7	breast:
9	chr11:63072177..63073810-chr11:63074201..63076770,2	MCF-7	breast:
10	chr11:63044746..63045474-chr11:63275562..63276187,3	MCF-7	breast:
11	chr11:63036813..63039630-chr11:63043025..63045856,2	K562	blood:
12	chr11:63042850..63045277-chr11:63045866..63048411,2	MCF-7	breast:
13	chr11:63072177..63073810-chr11:63074201..63076770,2	MCF-7	breast:
14	chr11:63044665..63045444-chr11:63402967..63403950,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC22A9-1	chr11:63090923-63092662	l_488_chr11:63090922-63093361_brain
2	lnc-SLC22A9-1	chr11:63093324-63095856	l_488_chr11:63090922-63093361_brain

No data

Variant related genes	Relation type
SLC22A10	TF binding region
SLC22A10	CpG island
ENSG00000133317	chromatin interactions

Extended variants
information (count: 1899 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1899 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1193726	chr11:63044992-63044993	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187425110	chr11:63044993-63044994	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553086426	chr11:63045017-63045018	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191792172	chr11:63045047-63045048	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571422022	chr11:63045080-63045081	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142684695	chr11:63045091-63045092	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs180982760	chr11:63045153-63045154	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79072499	chr11:63045174-63045175	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185807695	chr11:63045202-63045203	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533772156	chr11:63045225-63045226	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556110109	chr11:63045237-63045238	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576345707	chr11:63045245-63045246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538896151	chr11:63045247-63045248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150996786	chr11:63045259-63045260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113236928	chr11:63045265-63045266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541607403	chr11:63045326-63045327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117872057	chr11:63045330-63045331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1205166	chr11:63045354-63045355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs190371468	chr11:63045358-63045359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1205186	chr11:63045365-63045366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs1193907	chr11:63045370-63045371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551662730	chr11:63045443-63045444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182607338	chr11:63045473-63045474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187681304	chr11:63045525-63045526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567742948	chr11:63045543-63045544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115523160	chr11:63045553-63045554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373217414	chr11:63045579-63045580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190608731	chr11:63045587-63045588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549535147	chr11:63045613-63045614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111591350	chr11:63045620-63045621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182893078	chr11:63045665-63045666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538236671	chr11:63045667-63045668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375139680	chr11:63045694-63045695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189074209	chr11:63045719-63045720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369282693	chr11:63045721-63045722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534940643	chr11:63045753-63045754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117352652	chr11:63045777-63045778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574857399	chr11:63045799-63045800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193046738	chr11:63045837-63045838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113554055	chr11:63045880-63045881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555416740	chr11:63045940-63045941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139558965	chr11:63045967-63045968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371026715	chr11:63046010-63046011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149807939	chr11:63046036-63046037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184536811	chr11:63046088-63046089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112335931	chr11:63046114-63046115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111653918	chr11:63046122-63046123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540886882	chr11:63046139-63046140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35904254	chr11:63046175-63046176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561111248	chr11:63046196-63046197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	16417655	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63044000-63046400	Enhancers	Liver	Liver
2	chr11:63044600-63045800	Enhancers	HepG2	liver
3	chr11:63045800-63048200	Weak transcription	HepG2	liver
4	chr11:63046000-63046600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:63046400-63048200	Weak transcription	Liver	Liver
6	chr11:63046600-63050400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:63048200-63048400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:63048200-63049200	Enhancers	Liver	Liver
9	chr11:63048200-63049400	Enhancers	HepG2	liver
10	chr11:63048400-63048600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:63048600-63049000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:63049000-63049200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:63049200-63050200	Weak transcription	Liver	Liver
14	chr11:63049400-63050200	Weak transcription	HepG2	liver
15	chr11:63050200-63050400	Bivalent Enhancer	Esophagus	oesophagus
16	chr11:63050200-63050400	Enhancers	HepG2	liver
17	chr11:63050200-63050800	Enhancers	Pancreas	Pancrea
18	chr11:63050200-63050800	Active TSS	Spleen	Spleen
19	chr11:63050200-63051000	Enhancers	Liver	Liver
20	chr11:63050400-63051000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:63050400-63051200	Enhancers	Lung	lung
22	chr11:63050400-63056400	Weak transcription	HepG2	liver
23	chr11:63050800-63051000	Flanking Active TSS	Spleen	Spleen
24	chr11:63051000-63051200	Bivalent Enhancer	Esophagus	oesophagus
25	chr11:63051000-63056200	Weak transcription	Liver	Liver
26	chr11:63056200-63056600	Enhancers	Liver	Liver
27	chr11:63056400-63059200	Enhancers	HepG2	liver
28	chr11:63056600-63057200	Flanking Active TSS	Liver	Liver
29	chr11:63057200-63060600	Active TSS	Liver	Liver
30	chr11:63058800-63059600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:63060600-63061000	Flanking Active TSS	Liver	Liver
32	chr11:63061000-63061200	Enhancers	Liver	Liver
33	chr11:63061200-63061600	Weak transcription	Liver	Liver
34	chr11:63061600-63061800	Active TSS	Liver	Liver
35	chr11:63061800-63062000	Flanking Active TSS	Liver	Liver
36	chr11:63062000-63062600	Active TSS	Liver	Liver
37	chr11:63062600-63062800	Flanking Active TSS	Liver	Liver
38	chr11:63062800-63063000	Enhancers	Liver	Liver
39	chr11:63063000-63064400	Genic enhancers	Liver	Liver
40	chr11:63064400-63076000	Strong transcription	Liver	Liver
41	chr11:63074800-63075000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
42	chr11:63076000-63081000	ZNF genes & repeats	Liver	Liver

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