Variant report

Variant	nsv508627
Chromosome Location	chr11:47052659-47084007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:207)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:207 , 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	chr11:47077706-47078356	K562	blood:	n/a	n/a
2	ATF1	chr11:47077699-47078228	K562	blood:	n/a	n/a
3	ATF1	chr11:47056675-47056990	K562	blood:	n/a	n/a
4	ATF3	chr11:47077776-47078207	K562	blood:	n/a	n/a
5	BACH1	chr11:47082337-47082816	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:47082447-47082704	K562	blood:	n/a	n/a
7	BATF	chr11:47082351-47082726	GM12878	blood:	n/a	n/a
8	BATF	chr11:47082451-47082682	GM12878	blood:	n/a	n/a
9	BATF	chr11:47077876-47078195	GM12878	blood:	n/a	chr11:47078042-47078053
10	BHLHE40	chr11:47077488-47078239	K562	blood:	n/a	n/a
11	CCNT2	chr11:47077775-47078232	K562	blood:	n/a	n/a
12	CEBPB	chr11:47078944-47079215	IMR90	lung:	n/a	chr11:47079088-47079099
13	CEBPB	chr11:47078914-47079272	K562	blood:	n/a	chr11:47079088-47079099
14	CEBPB	chr11:47083350-47083702	MCF-7	breast:	n/a	n/a
15	CEBPB	chr11:47078909-47079288	H1-hESC	embryonic stem cell:	n/a	chr11:47079088-47079099
16	CEBPB	chr11:47083369-47083671	IMR90	lung:	n/a	n/a
17	CEBPB	chr11:47083355-47083668	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr11:47083296-47083696	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr11:47063584-47063778	K562	blood:	n/a	n/a
20	CEBPB	chr11:47078960-47079192	K562	blood:	n/a	chr11:47079088-47079099
21	CEBPB	chr11:47083331-47083699	K562	blood:	n/a	n/a
22	CEBPB	chr11:47078910-47079282	K562	blood:	n/a	chr11:47079088-47079099
23	CEBPB	chr11:47063595-47063754	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr11:47083279-47083744	MCF-7	breast:	n/a	n/a
25	CEBPB	chr11:47083293-47083721	A549	lung:	n/a	n/a
26	CEBPB	chr11:47078941-47079236	HepG2	liver:	n/a	chr11:47079088-47079099
27	CEBPB	chr11:47083318-47083686	K562	blood:	n/a	n/a
28	CEBPB	chr11:47083334-47083659	HepG2	liver:	n/a	n/a
29	CEBPB	chr11:47083399-47083657	A549	lung:	n/a	n/a
30	CEBPB	chr11:47083233-47083754	A549	lung:	n/a	n/a
31	CEBPB	chr11:47083322-47083651	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr11:47077729-47078188	K562	blood:	n/a	n/a
33	CEBPB	chr11:47079015-47079195	A549	lung:	n/a	chr11:47079088-47079099
34	CEBPD	chr11:47077633-47078288	K562	blood:	n/a	n/a
35	CEBPD	chr11:47077669-47078316	K562	blood:	n/a	n/a
36	CEBPD	chr11:47078844-47079339	K562	blood:	n/a	n/a
37	CREB1	chr11:47077614-47078289	K562	blood:	n/a	n/a
38	CTCF	chr11:47054957-47055021	GM20000	blood:	n/a	n/a
39	CTCF	chr11:47076060-47076210	GM12871	blood:	n/a	n/a
40	CTCF	chr11:47075161-47075184	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr11:47061379-47061451	GM13976	blood:	n/a	n/a
42	CUX1	chr11:47063914-47063925	GM12878	blood:	n/a	n/a
43	CUX1	chr11:47077495-47078551	K562	blood:	n/a	n/a
44	CUX1	chr11:47079167-47079283	K562	blood:	n/a	n/a
45	CUX1	chr11:47069654-47069897	GM12878	blood:	n/a	n/a
46	E2F4	chr11:47052743-47052879	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr11:47054750-47054867	MCF10A-Er-Src	breast:	n/a	n/a
48	EBF1	chr11:47079063-47079108	GM12878	blood:	n/a	n/a
49	ELF1	chr11:47056656-47056919	K562	blood:	n/a	n/a
50	EP300	chr11:47071769-47071916	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47077603-47077653	U87	brain:	n/a
2	chr11:47077603-47077653	HEEpiC	esophagus:	n/a
3	chr11:47077603-47077653	NHDF-neo	bronchial:	n/a
4	chr11:47083081-47083131	Hepatocyte	liver:	n/a
5	chr11:47077603-47077653	ECC-1	luminal epithelium:	n/a
6	chr11:47083081-47083131	NHBE	bronchial:	n/a
7	chr11:47077603-47077653	LNCaP	prostate:	n/a
8	chr11:47083081-47083131	Caco-2	colon:	n/a
9	chr11:47083081-47083131	U87	brain:	n/a
10	chr11:47077603-47077653	PFSK-1	brain:	n/a
11	chr11:47077603-47077653	T-47D	breast:	n/a
12	chr11:47077603-47077653	GM12891	blood:	n/a
13	chr11:47083081-47083131	Jurkat	blood:	n/a
14	chr11:47083081-47083131	PrEC	prostate:	n/a
15	chr11:47083081-47083131	HRE	kidney:	n/a
16	chr11:47083081-47083131	BJ	skin:	n/a
17	chr11:47083081-47083131	GM06990	blood:	n/a
18	chr11:47077603-47077653	ovcar-3	ovarian:	n/a
19	chr11:47083081-47083131	LNCaP	prostate:	n/a
20	chr11:47083081-47083131	PANC-1	pancreas:	n/a
21	chr11:47077603-47077653	BE2_C	brain:	n/a
22	chr11:47083081-47083131	SK-N-MC	brain:	n/a
23	chr11:47083081-47083131	SK-N-SH_RA	brain:	n/a
24	chr11:47083081-47083131	RPTEC	kidney:	n/a
25	chr11:47077603-47077653	PANC-1	pancreas:	n/a
26	chr11:47083081-47083131	NT2-D1	testis:	n/a
27	chr11:47083081-47083131	HAEpiC	amniotic membrane:	n/a
28	chr11:47077603-47077653	HL-60	blood:	n/a
29	chr11:47083081-47083131	T-47D	breast:	n/a
30	chr11:47077603-47077653	HCT-116	colon:	n/a
31	chr11:47083081-47083131	IMR90	lung:	fetal
32	chr11:47077603-47077653	MCF10A-Er-Src	breast:	n/a
33	chr11:47077603-47077653	NT2-D1	testis:	n/a
34	chr11:47083081-47083131	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:47077603-47077653	HIPEpiC	eye:	n/a
36	chr11:47077603-47077653	AG04449	skin:	fetal
37	chr11:47083081-47083131	PFSK-1	brain:	n/a
38	chr11:47083081-47083131	HEEpiC	esophagus:	n/a
39	chr11:47083081-47083131	BE2_C	brain:	n/a
40	chr11:47077603-47077653	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:47077603-47077653	GM19239	blood:	n/a
42	chr11:47083081-47083131	HEK293	kidney:	embryo
43	chr11:47083081-47083131	HL-60	blood:	n/a
44	chr11:47077603-47077653	A549	lung:	n/a
45	chr11:47083081-47083131	AG04450	lung:	fetal
46	chr11:47083081-47083131	SAEC	small airway:	n/a
47	chr11:47077603-47077653	GM12892	blood:	n/a
48	chr11:47083081-47083131	HUVEC	blood vessel:	n/a
49	chr11:47083081-47083131	A549	lung:	n/a
50	chr11:47077603-47077653	K562	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47048648..47051358-chr11:47053601..47056863,3	K562	blood:
2	chr11:47041841..47045384-chr11:47049919..47053840,3	K562	blood:
3	chr11:47072188..47073841-chr11:47075251..47077094,2	K562	blood:

No data

Variant related genes	Relation type
C11orf49	TF binding region
ENSG00000271350	TF binding region
C11orf49	CpG island
ENSG00000271350	CpG island
ENSG00000149179	chromatin interactions

Extended variants
information (count: 882 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:882 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552032506	chr11:47052659-47052660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147108348	chr11:47052729-47052730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565476970	chr11:47052774-47052775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530892775	chr11:47052798-47052799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185343146	chr11:47052858-47052859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372118879	chr11:47052879-47052880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189860927	chr11:47052935-47052936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75060504	chr11:47052955-47052956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74322786	chr11:47052994-47052995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565889813	chr11:47053029-47053030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534543728	chr11:47053056-47053057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558016463	chr11:47053136-47053137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35701201	chr11:47053159-47053160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578028271	chr11:47053163-47053164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537038950	chr11:47053194-47053195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201137185	chr11:47053248-47053249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12270668	chr11:47053249-47053250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563332469	chr11:47053266-47053267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376114426	chr11:47053267-47053268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573735764	chr11:47053331-47053332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187584038	chr11:47053360-47053361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559213725	chr11:47053394-47053395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190489917	chr11:47053495-47053496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74775880	chr11:47053603-47053604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545319667	chr11:47053642-47053643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202186000	chr11:47053673-47053674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543774182	chr11:47053675-47053676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565571613	chr11:47053691-47053692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531114829	chr11:47053726-47053727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529594655	chr11:47053767-47053768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74565837	chr11:47053900-47053901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560963811	chr11:47053913-47053914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530106576	chr11:47053927-47053928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547049835	chr11:47054034-47054035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200179861	chr11:47054071-47054072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7114194	chr11:47054082-47054083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534805146	chr11:47054110-47054111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551331267	chr11:47054127-47054128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571518692	chr11:47054128-47054129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376987435	chr11:47054188-47054189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556959417	chr11:47054202-47054203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369929656	chr11:47054318-47054319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374368563	chr11:47054324-47054325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573660288	chr11:47054348-47054349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182797768	chr11:47054356-47054357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138521671	chr11:47054367-47054368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143848109	chr11:47054374-47054375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7101470	chr11:47054448-47054449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs565349247	chr11:47054501-47054502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554783037	chr11:47054558-47054559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47026800-47080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:47027400-47056000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:47043200-47055200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:47043600-47054800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:47043800-47055800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:47045800-47056600	Weak transcription	Hela-S3	cervix
7	chr11:47048800-47058000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:47049200-47055000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:47049400-47054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:47050400-47055200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:47050600-47056000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:47053400-47077600	Weak transcription	Primary T cells from cord blood	blood
13	chr11:47054400-47055400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47054400-47055400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:47054600-47054800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:47054600-47055400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:47054600-47055400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:47054600-47055600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr11:47054800-47055400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:47054800-47055400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:47054800-47055600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:47054800-47055600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:47054800-47055600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:47055000-47055200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:47055000-47055200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:47055000-47055400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:47055000-47055400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr11:47055000-47055400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:47055000-47055400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:47055000-47055400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:47055000-47055400	Enhancers	NHDF-Ad	bronchial
32	chr11:47055200-47055400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:47055200-47055600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:47055200-47057600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:47055200-47062000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:47055400-47055600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr11:47055400-47058200	Weak transcription	NHDF-Ad	bronchial
38	chr11:47055400-47058800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:47055400-47077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:47055600-47077800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:47055800-47056000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:47055800-47057000	Enhancers	K562	blood
43	chr11:47056000-47056200	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr11:47056000-47056400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr11:47056000-47056600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr11:47056200-47058400	Weak transcription	Fetal Intestine Small	intestine
47	chr11:47056400-47073600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:47056600-47057200	ZNF genes & repeats	Hela-S3	cervix
49	chr11:47056600-47073800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:47057000-47058600	Weak transcription	K562	blood

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