Variant report

Variant	esv33818
Chromosome Location	chr11:5921129-5963801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:1344)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:5959067-5959439	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr11:5959190-5959403	K562	blood:	n/a	n/a
3	BACH1	chr11:5949390-5949949	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:5949537-5949904	K562	blood:	n/a	n/a
5	BATF	chr11:5944353-5944624	GM12878	blood:	n/a	chr11:5944501-5944512
6	BATF	chr11:5944337-5944642	GM12878	blood:	n/a	chr11:5944501-5944512
7	BCL11A	chr11:5944350-5944565	GM12878	blood:	n/a	n/a
8	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
9	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
10	CEBPB	chr11:5945178-5945285	K562	blood:	n/a	n/a
11	CTCF	chr11:5958281-5958366	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr11:5949811-5949883	Fibrobl	skin:	n/a	n/a
13	CTCF	chr11:5931094-5931181	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr11:5958240-5958390	A549	lung:	n/a	n/a
15	CTCF	chr11:5958432-5958492	GM13977	blood:	n/a	n/a
16	CTCF	chr11:5958318-5958371	GM12878	blood:	n/a	n/a
17	CTCF	chr11:5950040-5950190	GM12875	blood:	n/a	n/a
18	CTCF	chr11:5950560-5950575	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr11:5936935-5936996	LNCaP	prostate:	n/a	n/a
20	CTCF	chr11:5958260-5958410	HEK293	kidney:	n/a	n/a
21	CTCF	chr11:5958290-5958451	K562	blood:	n/a	n/a
22	E2F6	chr11:5949561-5949883	K562	blood:	n/a	n/a
23	E2F6	chr11:5949414-5949953	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F6	chr11:5949516-5949937	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F6	chr11:5959170-5959349	K562	blood:	n/a	n/a
26	EBF1	chr11:5944332-5944629	GM12878	blood:	n/a	n/a
27	EBF1	chr11:5931754-5932033	GM12878	blood:	n/a	n/a
28	EBF1	chr11:5931762-5932017	GM12878	blood:	n/a	n/a
29	EBF1	chr11:5944240-5944706	GM12878	blood:	n/a	n/a
30	EBF1	chr11:5944258-5944625	GM12878	blood:	n/a	n/a
31	FOS	chr11:5945117-5945390	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr11:5945147-5945340	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr11:5945126-5945376	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr11:5944321-5944731	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:5944341-5944693	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:5945095-5945345	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr11:5944308-5944703	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:5944326-5944678	MCF10A-Er-Src	breast:	n/a	n/a
39	FOXA1	chr11:5959729-5959964	T-47D	breast:	n/a	n/a
40	FOXA1	chr11:5959701-5960017	T-47D	breast:	n/a	n/a
41	FOXA2	chr11:5956022-5956407	A549	lung:	n/a	n/a
42	GATA2	chr11:5956081-5956389	K562	blood:	n/a	n/a
43	GATA3	chr11:5929042-5929194	SH-SY5Y	brain:	n/a	n/a
44	HEY1	chr11:5951706-5951926	K562	blood:	n/a	n/a
45	HEY1	chr11:5950091-5950764	K562	blood:	n/a	n/a
46	HEY1	chr11:5950172-5950591	K562	blood:	n/a	n/a
47	HEY1	chr11:5959346-5959586	K562	blood:	n/a	n/a
48	HEY1	chr11:5958323-5958568	K562	blood:	n/a	n/a
49	HEY1	chr11:5952133-5952421	K562	blood:	n/a	n/a
50	HEY1	chr11:5957732-5958750	K562	blood:	n/a	n/a

(count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5950357-5950407	GM12891	blood:	n/a
2	chr11:5952089-5952139	ProgFib	skin:	n/a
3	chr11:5950357-5950407	GM12891	blood:	n/a
4	chr11:5952089-5952139	ProgFib	skin:	n/a
5	chr11:5959658-5959708	HEK293	kidney:	embryo
6	chr11:5960015-5960065	MCF-7	breast:	n/a
7	chr11:5959239-5959289	HUVEC	blood vessel:	n/a
8	chr11:5959658-5959708	HRE	kidney:	n/a
9	chr11:5959658-5959708	MCF-7	breast:	n/a
10	chr11:5951833-5951883	NT2-D1	testis:	n/a
11	chr11:5949877-5949927	MCF-7	breast:	n/a
12	chr11:5957864-5957914	HNPCEpiC	eye:	n/a
13	chr11:5951433-5951483	ProgFib	skin:	n/a
14	chr11:5949877-5949927	ovcar-3	ovarian:	n/a
15	chr11:5960213-5960263	Caco-2	colon:	n/a
16	chr11:5952089-5952139	HepG2	liver:	n/a
17	chr11:5959239-5959289	NT2-D1	testis:	n/a
18	chr11:5959945-5959995	RPTEC	kidney:	n/a
19	chr11:5951316-5951366	PrEC	prostate:	n/a
20	chr11:5960213-5960263	PANC-1	pancreas:	n/a
21	chr11:5951433-5951483	SK-N-SH_RA	brain:	n/a
22	chr11:5951316-5951366	RPTEC	kidney:	n/a
23	chr11:5959945-5959995	A549	lung:	n/a
24	chr11:5952089-5952139	H1-hESC	embryonic stem cell:	embryo
25	chr11:5951956-5952006	GM06990	blood:	n/a
26	chr11:5956586-5956636	MCF-7	breast:	n/a
27	chr11:5958221-5958271	Jurkat	blood:	n/a
28	chr11:5959923-5959973	PFSK-1	brain:	n/a
29	chr11:5959239-5959289	HCM	heart:	n/a
30	chr11:5949877-5949927	HCT-116	colon:	n/a
31	chr11:5956787-5956837	GM06990	blood:	n/a
32	chr11:5949877-5949927	HNPCEpiC	eye:	n/a
33	chr11:5951360-5951410	RPTEC	kidney:	n/a
34	chr11:5960081-5960131	SK-N-SH	brain:	n/a
35	chr11:5959945-5959995	SKMC	muscle:	n/a
36	chr11:5959239-5959289	Hela-S3	cervix:	n/a
37	chr11:5959945-5959995	GM19239	blood:	n/a
38	chr11:5960015-5960065	SK-N-SH_RA	brain:	n/a
39	chr11:5960015-5960065	HEK293	kidney:	embryo
40	chr11:5950357-5950407	HIPEpiC	eye:	n/a
41	chr11:5950798-5950848	BJ	skin:	n/a
42	chr11:5952089-5952139	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:5951956-5952006	GM12892	blood:	n/a
44	chr11:5960213-5960263	AoSMC	blood vessel:	n/a
45	chr11:5959945-5959995	GM12892	blood:	n/a
46	chr11:5951433-5951483	HCPEpiC	choroid plexus:	n/a
47	chr11:5951048-5951098	HL-60	blood:	n/a
48	chr11:5956787-5956837	GM12891	blood:	n/a
49	chr11:5959658-5959708	HRCEpiC	kidney:	n/a
50	chr11:5949877-5949927	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:5950724..5952240-chr7:153107809..153110032,4	K562	blood:
2	chr11:5952222..5953725-chr7:153106291..153108525,3	K562	blood:
3	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
4	chr11:5950723..5952254-chr7:153108526..153111145,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR56A3-1	chr11:5959981-5960217	ENSG00000255257

No data

Variant related genes	Relation type
OR56A3	TF binding region
TRIM5	TF binding region
ENSG00000255257	TF binding region
OR56A3	CpG island
TRIM5	CpG island
ENSG00000255257	CpG island
ENSG00000234722	chromatin interactions

Extended variants
information (count: 844 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117228768	chr11:5921144-5921145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560657034	chr11:5921195-5921196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144472503	chr11:5921196-5921197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549385171	chr11:5921231-5921232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551829373	chr11:5921232-5921233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375207584	chr11:5921233-5921234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117992866	chr11:5921239-5921240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371025108	chr11:5921281-5921282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533661720	chr11:5921316-5921317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565647825	chr11:5921337-5921338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183746198	chr11:5921339-5921340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567050173	chr11:5921346-5921347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534131129	chr11:5921356-5921357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555865161	chr11:5921362-5921363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138012940	chr11:5921363-5921364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538371116	chr11:5921370-5921371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73398289	chr11:5921396-5921397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12795021	chr11:5924824-5924825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182546014	chr11:5924876-5924877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369553466	chr11:5924946-5924947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185142963	chr11:5924960-5924961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577983169	chr11:5924966-5924967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559782212	chr11:5924980-5924981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541875346	chr11:5924982-5924983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73398301	chr11:5925073-5925074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190433601	chr11:5925117-5925118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10838806	chr11:5925129-5925130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs36114926	chr11:5925131-5925132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564353541	chr11:5925177-5925178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4758183	chr11:5925178-5925179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181563209	chr11:5925220-5925221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561859139	chr11:5925303-5925304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72889307	chr11:5925317-5925318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529100716	chr11:5925318-5925319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150355010	chr11:5925332-5925333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185310091	chr11:5925336-5925337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539034698	chr11:5925349-5925350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551333789	chr11:5925367-5925368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17808328	chr11:5925369-5925370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs115642490	chr11:5925379-5925380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375831018	chr11:5925383-5925384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530823962	chr11:5925408-5925409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11039518	chr11:5925432-5925433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190169563	chr11:5925488-5925489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199564735	chr11:5925494-5925495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557009620	chr11:5925505-5925506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549327717	chr11:5925515-5925516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11600820	chr11:5925561-5925562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546017325	chr11:5925601-5925602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532960556	chr11:5925609-5925610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:5927600-5927800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:5944000-5944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:5944000-5944600	Enhancers	A549	lung
10	chr11:5944000-5944800	Enhancers	GM12878-XiMat	blood
11	chr11:5944000-5945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:5944000-5945200	Enhancers	NHEK	skin
13	chr11:5944000-5945400	Enhancers	HMEC	breast
14	chr11:5944200-5945000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:5950800-5951600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:5952000-5953000	ZNF genes & repeats	Pancreas	Pancrea
17	chr11:5952800-5959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:5959000-5959400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:5959000-5960600	ZNF genes & repeats	Placenta	Placenta
20	chr11:5959400-5962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:5960600-5961000	Enhancers	Placenta	Placenta

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