Variant report

Variant	nsv1047280
Chromosome Location	chr11:4559233-4585036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:459)
CpG islands
(count:306)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:4560933-4561036	K562	blood:	n/a	n/a
2	ARID3A	chr11:4568278-4568297	HepG2	liver:	n/a	n/a
3	BACH1	chr11:4580944-4580984	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr11:4578528-4578549	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr11:4569325-4569525	A549	lung:	n/a	chr11:4569397-4569410
6	CEBPB	chr11:4568337-4568455	HepG2	liver:	n/a	n/a
7	CTCF	chr11:4572940-4573090	GM12870	blood:	n/a	n/a
8	CTCF	chr11:4561312-4561384	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr11:4573000-4573150	A549	lung:	n/a	n/a
10	CTCF	chr11:4572940-4573090	GM12871	blood:	n/a	n/a
11	CTCF	chr11:4560939-4561193	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr11:4573000-4573150	GM12869	blood:	n/a	n/a
13	CTCF	chr11:4572880-4573030	K562	blood:	n/a	n/a
14	CTCF	chr11:4572960-4573110	HCFaa	heart:	n/a	n/a
15	CTCF	chr11:4561000-4561150	HVMF	connective:	n/a	n/a
16	CTCF	chr11:4561000-4561150	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr11:4572702-4572784	GM19240	blood:	n/a	n/a
18	CTCF	chr11:4572940-4573090	GM12866	blood:	n/a	n/a
19	CTCF	chr11:4572700-4572850	GM12865	blood:	n/a	n/a
20	CTCF	chr11:4572980-4573130	NHEK	skin:	n/a	n/a
21	CTCF	chr11:4560980-4561130	HMF	breast:	n/a	n/a
22	CTCF	chr11:4560980-4561130	GM06990	blood:	n/a	n/a
23	CTCF	chr11:4561000-4561150	A549	lung:	n/a	n/a
24	CTCF	chr11:4572960-4573110	GM12872	blood:	n/a	n/a
25	CTCF	chr11:4572940-4573090	AG10803	skin:	n/a	n/a
26	CTCF	chr11:4561020-4561170	A549	lung:	n/a	n/a
27	CTCF	chr11:4572835-4573205	GM12878	blood:	n/a	n/a
28	CTCF	chr11:4572804-4573195	A549	lung:	n/a	n/a
29	CTCF	chr11:4573180-4573330	K562	blood:	n/a	n/a
30	CTCF	chr11:4560960-4561110	GM12867	blood:	n/a	n/a
31	CTCF	chr11:4560880-4561030	WI-38	lung:	n/a	n/a
32	CTCF	chr11:4572832-4573213	K562	blood:	n/a	n/a
33	CTCF	chr11:4560980-4561130	BJ	skin:	n/a	n/a
34	CTCF	chr11:4560940-4561090	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr11:4560920-4561070	NHEK	skin:	n/a	n/a
36	CTCF	chr11:4560980-4561130	K562	blood:	n/a	n/a
37	CTCF	chr11:4572735-4572756	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr11:4572960-4573110	AG04449	skin:	n/a	n/a
39	CTCF	chr11:4560960-4561110	GM12868	blood:	n/a	n/a
40	CTCF	chr11:4560960-4561110	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr11:4560830-4561227	K562	blood:	n/a	n/a
42	CTCF	chr11:4560980-4561130	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr11:4572928-4573112	HepG2	liver:	n/a	n/a
44	CTCF	chr11:4572940-4573090	GM12874	blood:	n/a	n/a
45	CTCF	chr11:4560960-4561110	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr11:4572908-4573137	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr11:4560943-4561129	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr11:4560919-4561159	GM19240	blood:	n/a	n/a
49	CTCF	chr11:4560833-4561267	K562	blood:	n/a	n/a
50	CTCF	chr11:4560960-4561110	GM12875	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4566169-4566219	Jurkat	blood:	n/a
2	chr11:4566169-4566219	Jurkat	blood:	n/a
3	chr11:4566380-4566430	GM12891	blood:	n/a
4	chr11:4566169-4566219	PrEC	prostate:	n/a
5	chr11:4565489-4565539	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:4565475-4565525	HRCEpiC	kidney:	n/a
7	chr11:4565489-4565539	HNPCEpiC	eye:	n/a
8	chr11:4565475-4565525	SAEC	small airway:	n/a
9	chr11:4565489-4565539	ovcar-3	ovarian:	n/a
10	chr11:4566169-4566219	Caco-2	colon:	n/a
11	chr11:4565475-4565525	AG04450	lung:	fetal
12	chr11:4565475-4565525	HEK293	kidney:	embryo
13	chr11:4566853-4566903	MCF-7	breast:	n/a
14	chr11:4565489-4565539	AG09309	skin:	n/a
15	chr11:4566853-4566903	SK-N-MC	brain:	n/a
16	chr11:4565489-4565539	IMR90	lung:	fetal
17	chr11:4565475-4565525	PrEC	prostate:	n/a
18	chr11:4566169-4566219	SAEC	small airway:	n/a
19	chr11:4566853-4566903	GM06990	blood:	n/a
20	chr11:4566380-4566430	NT2-D1	testis:	n/a
21	chr11:4565475-4565525	ECC-1	luminal epithelium:	n/a
22	chr11:4566853-4566903	AG04449	skin:	fetal
23	chr11:4565475-4565525	SK-N-MC	brain:	n/a
24	chr11:4566853-4566903	U87	brain:	n/a
25	chr11:4566853-4566903	H1-hESC	embryonic stem cell:	embryo
26	chr11:4566380-4566430	ECC-1	luminal epithelium:	n/a
27	chr11:4566853-4566903	HEEpiC	esophagus:	n/a
28	chr11:4566380-4566430	H1-hESC	embryonic stem cell:	embryo
29	chr11:4565489-4565539	LNCaP	prostate:	n/a
30	chr11:4565475-4565525	SK-N-SH_RA	brain:	n/a
31	chr11:4566380-4566430	Caco-2	colon:	n/a
32	chr11:4566853-4566903	PFSK-1	brain:	n/a
33	chr11:4565475-4565525	ProgFib	skin:	n/a
34	chr11:4566380-4566430	PrEC	prostate:	n/a
35	chr11:4566169-4566219	NHBE	bronchial:	n/a
36	chr11:4566169-4566219	MCF10A-Er-Src	breast:	n/a
37	chr11:4566169-4566219	IMR90	lung:	fetal
38	chr11:4566853-4566903	SK-N-SH_RA	brain:	n/a
39	chr11:4566169-4566219	HEEpiC	esophagus:	n/a
40	chr11:4566853-4566903	Hela-S3	cervix:	n/a
41	chr11:4566169-4566219	LNCaP	prostate:	n/a
42	chr11:4565489-4565539	A549	lung:	n/a
43	chr11:4566853-4566903	AG09309	skin:	n/a
44	chr11:4566380-4566430	HRE	kidney:	n/a
45	chr11:4565489-4565539	K562	blood:	n/a
46	chr11:4566380-4566430	AG04450	lung:	fetal
47	chr11:4565475-4565525	RPTEC	kidney:	n/a
48	chr11:4566169-4566219	NHDF-neo	bronchial:	n/a
49	chr11:4566169-4566219	T-47D	breast:	n/a
50	chr11:4565489-4565539	NH-A	brain:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:4208647..4209327-chr11:4572350..4573087,2	MCF-7	breast:
2	chr11:4575133..4577035-chr11:4578318..4580954,2	K562	blood:
3	chr11:4558523..4560457-chr11:4563023..4565124,2	K562	blood:
4	chr11:4563433..4564999-chr11:4565844..4568054,2	K562	blood:
5	chr11:4575133..4577035-chr11:4578318..4580954,2	K562	blood:
6	chr11:4202964..4204119-chr11:4560777..4561880,3	MCF-7	breast:
7	chr11:4563397..4564933-chr11:4566554..4568624,2	K562	blood:
8	chr11:4208014..4209388-chr11:4560615..4561905,12	MCF-7	breast:
9	chr11:4208191..4209065-chr11:4560550..4561852,3	MCF-7	breast:
10	chr11:4558523..4560457-chr11:4563023..4565124,2	K562	blood:
11	chr11:4208297..4209495-chr11:4560565..4561805,6	K562	blood:
12	chr11:4563397..4564933-chr11:4566554..4568624,2	K562	blood:
13	chr11:4208891..4209471-chr11:4572771..4573597,3	MCF-7	breast:

No data

Variant related genes	Relation type
OR52M1	TF binding region
OR52M1	CpG island
ENSG00000197790	chromatin interactions
ENSG00000254480	chromatin interactions

Extended variants
information (count: 1497 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1497 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562459597	chr11:4560550-4560551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147555537	chr11:4560559-4560560	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371012623	chr11:4560560-4560561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76781350	chr11:4560587-4560588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369601346	chr11:4560604-4560605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2657180	chr11:4560647-4560648	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567484719	chr11:4560649-4560650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564459275	chr11:4560666-4560667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188592682	chr11:4560677-4560678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551058971	chr11:4560678-4560679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181595368	chr11:4560682-4560683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142094754	chr11:4560696-4560697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533379199	chr11:4560697-4560698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575920104	chr11:4560706-4560707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78119734	chr11:4560719-4560720	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2709173	chr11:4560741-4560742	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528181319	chr11:4560761-4560762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs151099912	chr11:4560795-4560796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs16910179	chr11:4560812-4560813	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368107714	chr11:4560835-4560836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185789010	chr11:4560837-4560838	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574465077	chr11:4560840-4560841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556302179	chr11:4560853-4560854	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12271258	chr11:4560854-4560855	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532010863	chr11:4560860-4560861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2657179	chr11:4560884-4560885	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141041102	chr11:4560891-4560892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112747977	chr11:4560894-4560895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs16913912	chr11:4560906-4560907	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2657178	chr11:4560907-4560908	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570884056	chr11:4560946-4560947	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374371306	chr11:4560952-4560953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531767711	chr11:4560999-4561000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533548493	chr11:4561003-4561004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550628556	chr11:4561005-4561006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10836245	chr11:4561039-4561040	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533280458	chr11:4561057-4561058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573394781	chr11:4561086-4561087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542922589	chr11:4561104-4561105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7105654	chr11:4561123-4561124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10836246	chr11:4561140-4561141	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181983008	chr11:4561167-4561168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11032710	chr11:4561175-4561176	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs118149958	chr11:4561178-4561179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556265224	chr11:4561182-4561183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577788395	chr11:4561224-4561225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10836247	chr11:4561225-4561226	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543728816	chr11:4561296-4561297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76457218	chr11:4561299-4561300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10836248	chr11:4561309-4561310	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	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
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic cancer	23613489	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4564600-4565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:4564600-4565200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:4564600-4565400	Enhancers	HUVEC	blood vessel
4	chr11:4564600-4565400	Enhancers	NHEK	skin
5	chr11:4564800-4565200	Enhancers	A549	lung
6	chr11:4564800-4565400	Enhancers	HMEC	breast
7	chr11:4566600-4569800	Enhancers	Liver	Liver
8	chr11:4567200-4568800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr11:4567600-4569400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr11:4567800-4569200	Enhancers	Fetal Intestine Small	intestine
11	chr11:4567800-4569400	Enhancers	Fetal Intestine Large	intestine
12	chr11:4568000-4568400	Enhancers	Stomach Mucosa	stomach
13	chr11:4568000-4569400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:4568400-4568600	Enhancers	Gastric	stomach
15	chr11:4568600-4569200	Enhancers	Small Intestine	intestine
16	chr11:4568600-4580600	Weak transcription	Gastric	stomach
17	chr11:4572000-4572400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:4572400-4572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:4572600-4572800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:4575200-4575600	Enhancers	K562	blood
21	chr11:4580400-4581600	Enhancers	Pancreas	Pancrea
22	chr11:4580400-4582600	Enhancers	Placenta	Placenta
23	chr11:4580600-4581200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:4580600-4581400	Enhancers	Esophagus	oesophagus
25	chr11:4580600-4581600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:4580600-4581600	Enhancers	Gastric	stomach
27	chr11:4580800-4581600	Enhancers	Fetal Lung	lung
28	chr11:4580800-4581800	Enhancers	Fetal Intestine Large	intestine
29	chr11:4580800-4581800	Enhancers	Fetal Intestine Small	intestine
30	chr11:4580800-4582000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:4581000-4581200	Flanking Active TSS	Colonic Mucosa	Colon
32	chr11:4581000-4581400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:4581000-4581400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:4581000-4581400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr11:4581000-4581800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:4581000-4582000	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:4581200-4581400	Active TSS	Colonic Mucosa	Colon
38	chr11:4581200-4582000	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

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