Variant report

Variant	esv2751024
Chromosome Location	chr11:4535321-4578714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:500)
CpG islands
(count:305)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:500 , 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	CEBPB	chr11:4569325-4569525	A549	lung:	n/a	chr11:4569397-4569410
4	CEBPB	chr11:4578528-4578549	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr11:4568337-4568455	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:4544032-4544147	K562	blood:	n/a	n/a
7	CEBPB	chr11:4551821-4552021	A549	lung:	n/a	n/a
8	CEBPB	chr11:4540065-4540287	HepG2	liver:	n/a	chr11:4540117-4540130
9	CTCF	chr11:4572920-4573070	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr11:4572685-4572804	Fibrobl	skin:	n/a	n/a
11	CTCF	chr11:4560830-4561227	K562	blood:	n/a	n/a
12	CTCF	chr11:4560940-4561090	HepG2	liver:	n/a	n/a
13	CTCF	chr11:4560940-4561090	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr11:4572957-4573088	Fibrobl	skin:	n/a	n/a
15	CTCF	chr11:4560960-4561110	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr11:4560898-4561152	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr11:4561000-4561150	AG09319	gingival:	n/a	n/a
18	CTCF	chr11:4572920-4573070	HEK293	kidney:	n/a	n/a
19	CTCF	chr11:4572698-4573408	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr11:4560922-4561165	NHEK	skin:	n/a	n/a
21	CTCF	chr11:4560940-4561090	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr11:4560932-4561139	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:4561000-4561150	HVMF	connective:	n/a	n/a
24	CTCF	chr11:4572900-4573050	GM12864	blood:	n/a	n/a
25	CTCF	chr11:4560980-4561130	GM06990	blood:	n/a	n/a
26	CTCF	chr11:4560900-4561050	GM12870	blood:	n/a	n/a
27	CTCF	chr11:4560837-4561251	GM12878	blood:	n/a	n/a
28	CTCF	chr11:4560960-4561110	SAEC	small airway:	n/a	n/a
29	CTCF	chr11:4560960-4561110	GM12875	blood:	n/a	n/a
30	CTCF	chr11:4560926-4561138	A549	lung:	n/a	n/a
31	CTCF	chr11:4560935-4561150	GM13976	blood:	n/a	n/a
32	CTCF	chr11:4560920-4561070	GM12872	blood:	n/a	n/a
33	CTCF	chr11:4572980-4573130	GM06990	blood:	n/a	n/a
34	CTCF	chr11:4572960-4573110	HEK293	kidney:	n/a	n/a
35	CTCF	chr11:4572684-4572755	GM19239	blood:	n/a	n/a
36	CTCF	chr11:4572803-4573243	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:4572920-4573070	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr11:4560960-4561110	HPF	lung:	n/a	n/a
39	CTCF	chr11:4560923-4561160	A549	lung:	n/a	n/a
40	CTCF	chr11:4560980-4561130	HMEC	breast:	n/a	n/a
41	CTCF	chr11:4572960-4573110	HMF	breast:	n/a	n/a
42	CTCF	chr11:4572960-4573110	HCFaa	heart:	n/a	n/a
43	CTCF	chr11:4560980-4561130	HRE	kidney:	n/a	n/a
44	CTCF	chr11:4559640-4559790	HepG2	liver:	n/a	n/a
45	CTCF	chr11:4560920-4561070	AG04450	lung:	n/a	n/a
46	CTCF	chr11:4572920-4573070	GM12872	blood:	n/a	n/a
47	CTCF	chr11:4572909-4573138	K562	blood:	n/a	n/a
48	CTCF	chr11:4560940-4561090	SAEC	small airway:	n/a	n/a
49	CTCF	chr11:4572900-4573050	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr11:4561000-4561150	BJ	skin:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4566853-4566903	BJ	skin:	n/a
2	chr11:4565475-4565525	HepG2	liver:	n/a
3	chr11:4565489-4565539	AG04449	skin:	fetal
4	chr11:4565489-4565539	BJ	skin:	n/a
5	chr11:4566380-4566430	GM12878	blood:	n/a
6	chr11:4566169-4566219	MCF-7	breast:	n/a
7	chr11:4566380-4566430	U87	brain:	n/a
8	chr11:4566169-4566219	T-47D	breast:	n/a
9	chr11:4566380-4566430	HCT-116	colon:	n/a
10	chr11:4565475-4565525	Hepatocyte	liver:	n/a
11	chr11:4566380-4566430	IMR90	lung:	fetal
12	chr11:4566169-4566219	HNPCEpiC	eye:	n/a
13	chr11:4566380-4566430	HRE	kidney:	n/a
14	chr11:4565489-4565539	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:4566169-4566219	NH-A	brain:	n/a
16	chr11:4565475-4565525	HEK293	kidney:	embryo
17	chr11:4565475-4565525	T-47D	breast:	n/a
18	chr11:4565489-4565539	Jurkat	blood:	n/a
19	chr11:4566169-4566219	HIPEpiC	eye:	n/a
20	chr11:4565475-4565525	SK-N-SH	brain:	n/a
21	chr11:4566169-4566219	AG04449	skin:	fetal
22	chr11:4565489-4565539	ECC-1	luminal epithelium:	n/a
23	chr11:4566380-4566430	Caco-2	colon:	n/a
24	chr11:4565475-4565525	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:4566169-4566219	AoSMC	blood vessel:	n/a
26	chr11:4566853-4566903	Hela-S3	cervix:	n/a
27	chr11:4565489-4565539	AG09309	skin:	n/a
28	chr11:4565489-4565539	NH-A	brain:	n/a
29	chr11:4566853-4566903	NHDF-neo	bronchial:	n/a
30	chr11:4565475-4565525	HCF	heart:	n/a
31	chr11:4565489-4565539	SAEC	small airway:	n/a
32	chr11:4566169-4566219	ovcar-3	ovarian:	n/a
33	chr11:4565489-4565539	AoSMC	blood vessel:	n/a
34	chr11:4566380-4566430	GM12892	blood:	n/a
35	chr11:4566380-4566430	NHBE	bronchial:	n/a
36	chr11:4566380-4566430	HEEpiC	esophagus:	n/a
37	chr11:4566169-4566219	HEEpiC	esophagus:	n/a
38	chr11:4566853-4566903	ovcar-3	ovarian:	n/a
39	chr11:4565475-4565525	AG04449	skin:	fetal
40	chr11:4566853-4566903	GM12891	blood:	n/a
41	chr11:4566380-4566430	PANC-1	pancreas:	n/a
42	chr11:4566169-4566219	GM12892	blood:	n/a
43	chr11:4565489-4565539	Caco-2	colon:	n/a
44	chr11:4566169-4566219	BJ	skin:	n/a
45	chr11:4565475-4565525	AoSMC	blood vessel:	n/a
46	chr11:4565475-4565525	HMEC	breast:	n/a
47	chr11:4565475-4565525	HL-60	blood:	n/a
48	chr11:4565489-4565539	HL-60	blood:	n/a
49	chr11:4566853-4566903	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:4566380-4566430	Hela-S3	cervix:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:4208647..4209327-chr11:4572350..4573087,2	MCF-7	breast:
2	chr11:4208297..4209495-chr11:4560565..4561805,6	K562	blood:
3	chr11:4575133..4577035-chr11:4578318..4580954,2	K562	blood:
4	chr11:4531179..4533009-chr11:4535130..4536667,2	K562	blood:
5	chr11:4208191..4209065-chr11:4560550..4561852,3	MCF-7	breast:
6	chr11:4544362..4546597-chr11:4548286..4550810,3	K562	blood:
7	chr11:4558523..4560457-chr11:4563023..4565124,2	K562	blood:
8	chr11:4575133..4577035-chr11:4578318..4580954,2	K562	blood:
9	chr11:4558523..4560457-chr11:4563023..4565124,2	K562	blood:
10	chr11:4563397..4564933-chr11:4566554..4568624,2	K562	blood:
11	chr11:4202964..4204119-chr11:4560777..4561880,3	MCF-7	breast:
12	chr11:4535006..4537782-chr11:4538961..4542552,3	K562	blood:
13	chr11:4563433..4564999-chr11:4565844..4568054,2	K562	blood:
14	chr11:4563397..4564933-chr11:4566554..4568624,2	K562	blood:
15	chr11:4208014..4209388-chr11:4560615..4561905,12	MCF-7	breast:
16	chr11:4544362..4546597-chr11:4548286..4550810,3	K562	blood:
17	chr11:4208891..4209471-chr11:4572771..4573597,3	MCF-7	breast:

No data

Variant related genes	Relation type
OR52M1	TF binding region
OR52M2P	TF binding region
OR52M1	CpG island
OR52M2P	CpG island
ENSG00000197790	chromatin interactions
ENSG00000226616	chromatin interactions
ENSG00000254480	chromatin interactions

Extended variants
information (count: 1760 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1760 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16906054	chr11:4535321-4535322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185715790	chr11:4535330-4535331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564097406	chr11:4535347-4535348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533475945	chr11:4535355-4535356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145042979	chr11:4535364-4535365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368232539	chr11:4535389-4535390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375178038	chr11:4535390-4535391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188477216	chr11:4535440-4535441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542924259	chr11:4535459-4535460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2566229	chr11:4535466-4535467	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs374454298	chr11:4535498-4535499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115053684	chr11:4535513-4535514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192948002	chr11:4535514-4535515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533472725	chr11:4535524-4535525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17218998	chr11:4535533-4535534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs150690957	chr11:4535555-4535556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534189714	chr11:4535558-4535559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556007128	chr11:4535649-4535650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2566228	chr11:4535737-4535738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139718760	chr11:4535738-4535739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111930228	chr11:4535746-4535747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16906127	chr11:4535747-4535748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2566227	chr11:4535771-4535772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs149765630	chr11:4535788-4535789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546103003	chr11:4535789-4535790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553455603	chr11:4535833-4535834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146341843	chr11:4535842-4535843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183860238	chr11:4535844-4535845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80122780	chr11:4535877-4535878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561233209	chr11:4535885-4535886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2566226	chr11:4535889-4535890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2566225	chr11:4535900-4535901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188490043	chr11:4535901-4535902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551867050	chr11:4535944-4535945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181294890	chr11:4535989-4535990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183619721	chr11:4536009-4536010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541431504	chr11:4536011-4536012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2566224	chr11:4536015-4536016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs139631794	chr11:4536033-4536034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2566223	chr11:4536038-4536039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1897138	chr11:4536094-4536095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551633036	chr11:4536105-4536106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79592320	chr11:4536108-4536109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553807174	chr11:4536115-4536116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146486637	chr11:4536117-4536118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542598969	chr11:4536122-4536123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569907958	chr11:4536123-4536124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2709156	chr11:4536143-4536144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2566222	chr11:4536146-4536147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146435981	chr11:4536151-4536152	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
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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4532600-4535600	Enhancers	Colon Smooth Muscle	Colon
2	chr11:4534200-4536200	Weak transcription	Ovary	ovary
3	chr11:4535200-4535400	Enhancers	Rectal Smooth Muscle	rectum
4	chr11:4535200-4535600	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr11:4536200-4536400	Enhancers	Ovary	ovary
6	chr11:4542800-4544200	Enhancers	Primary T cells from cord blood	blood
7	chr11:4544600-4545600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:4544800-4545400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:4548200-4548600	Enhancers	Esophagus	oesophagus
10	chr11:4552800-4553000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:4552800-4553200	Enhancers	Placenta	Placenta
12	chr11:4552800-4553200	Active TSS	Stomach Smooth Muscle	stomach
13	chr11:4552800-4553400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:4552800-4553400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr11:4552800-4553400	Enhancers	Esophagus	oesophagus
16	chr11:4564600-4565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:4564600-4565200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:4564600-4565400	Enhancers	HUVEC	blood vessel
19	chr11:4564600-4565400	Enhancers	NHEK	skin
20	chr11:4564800-4565200	Enhancers	A549	lung
21	chr11:4564800-4565400	Enhancers	HMEC	breast
22	chr11:4566600-4569800	Enhancers	Liver	Liver
23	chr11:4567200-4568800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:4567600-4569400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr11:4567800-4569200	Enhancers	Fetal Intestine Small	intestine
26	chr11:4567800-4569400	Enhancers	Fetal Intestine Large	intestine
27	chr11:4568000-4568400	Enhancers	Stomach Mucosa	stomach
28	chr11:4568000-4569400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:4568400-4568600	Enhancers	Gastric	stomach
30	chr11:4568600-4569200	Enhancers	Small Intestine	intestine
31	chr11:4568600-4580600	Weak transcription	Gastric	stomach
32	chr11:4572000-4572400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:4572400-4572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:4572600-4572800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:4575200-4575600	Enhancers	K562	blood

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