Variant report

Variant	esv3693387
Chromosome Location	chr11:4527196-4573236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:497)
CpG islands
(count:305)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:497 , 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	chr11:4568337-4568455	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:4551821-4552021	A549	lung:	n/a	n/a
5	CEBPB	chr11:4569325-4569525	A549	lung:	n/a	chr11:4569397-4569410
6	CEBPB	chr11:4544032-4544147	K562	blood:	n/a	n/a
7	CEBPB	chr11:4540065-4540287	HepG2	liver:	n/a	chr11:4540117-4540130
8	CTCF	chr11:4560837-4561251	GM12878	blood:	n/a	n/a
9	CTCF	chr11:4560980-4561130	AG09309	skin:	n/a	n/a
10	CTCF	chr11:4572940-4573090	GM12870	blood:	n/a	n/a
11	CTCF	chr11:4560926-4561136	GM12891	blood:	n/a	n/a
12	CTCF	chr11:4560980-4561130	HRE	kidney:	n/a	n/a
13	CTCF	chr11:4560900-4561050	GM12870	blood:	n/a	n/a
14	CTCF	chr11:4561000-4561150	NHEK	skin:	n/a	n/a
15	CTCF	chr11:4560920-4561070	NHEK	skin:	n/a	n/a
16	CTCF	chr11:4572717-4572768	MCF-7	breast:	n/a	n/a
17	CTCF	chr11:4560928-4561160	GM10248	blood:	n/a	n/a
18	CTCF	chr11:4560920-4561070	HMEC	breast:	n/a	n/a
19	CTCF	chr11:4560905-4561155	HepG2	liver:	n/a	n/a
20	CTCF	chr11:4572980-4573130	GM12875	blood:	n/a	n/a
21	CTCF	chr11:4572786-4573184	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:4572920-4573070	HCT-116	colon:	n/a	n/a
23	CTCF	chr11:4572839-4573078	A549	lung:	n/a	n/a
24	CTCF	chr11:4561000-4561150	HFF	foreskin:	n/a	n/a
25	CTCF	chr11:4560960-4561110	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr11:4560919-4561198	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:4572926-4573110	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr11:4560980-4561130	HL-60	blood:	n/a	n/a
29	CTCF	chr11:4560980-4561130	AG09319	gingival:	n/a	n/a
30	CTCF	chr11:4561000-4561150	WI-38	lung:	n/a	n/a
31	CTCF	chr11:4561312-4561384	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr11:4572900-4573050	NHEK	skin:	n/a	n/a
33	CTCF	chr11:4560980-4561130	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr11:4560980-4561130	GM12875	blood:	n/a	n/a
35	CTCF	chr11:4572940-4573090	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr11:4561000-4561150	NHLF	lung:	n/a	n/a
37	CTCF	chr11:4560947-4561151	MCF-7	breast:	n/a	n/a
38	CTCF	chr11:4561000-4561150	HEK293	kidney:	n/a	n/a
39	CTCF	chr11:4560980-4561130	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr11:4572702-4572784	GM19240	blood:	n/a	n/a
41	CTCF	chr11:4572718-4572735	ProgFib	skin:	n/a	n/a
42	CTCF	chr11:4560960-4561110	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:4560980-4561130	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr11:4561020-4561170	A549	lung:	n/a	n/a
45	CTCF	chr11:4572946-4573104	ProgFib	skin:	n/a	n/a
46	CTCF	chr11:4572954-4573106	NHEK	skin:	n/a	n/a
47	CTCF	chr11:4560960-4561110	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr11:4560960-4561110	GM12873	blood:	n/a	n/a
49	CTCF	chr11:4572951-4573109	GM19238	blood:	n/a	n/a
50	CTCF	chr11:4572948-4573099	GM12892	blood:	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	chr11:4566169-4566219	NT2-D1	testis:	n/a
2	chr11:4565475-4565525	Hepatocyte	liver:	n/a
3	chr11:4566380-4566430	U87	brain:	n/a
4	chr11:4566380-4566430	LNCaP	prostate:	n/a
5	chr11:4566380-4566430	IMR90	lung:	fetal
6	chr11:4565475-4565525	HMEC	breast:	n/a
7	chr11:4566853-4566903	HCM	heart:	n/a
8	chr11:4565489-4565539	GM12878	blood:	n/a
9	chr11:4565489-4565539	K562	blood:	n/a
10	chr11:4566853-4566903	PFSK-1	brain:	n/a
11	chr11:4566853-4566903	HepG2	liver:	n/a
12	chr11:4565489-4565539	BE2_C	brain:	n/a
13	chr11:4566169-4566219	IMR90	lung:	fetal
14	chr11:4566169-4566219	PrEC	prostate:	n/a
15	chr11:4566380-4566430	Caco-2	colon:	n/a
16	chr11:4565475-4565525	U87	brain:	n/a
17	chr11:4566169-4566219	AG09309	skin:	n/a
18	chr11:4566380-4566430	K562	blood:	n/a
19	chr11:4566169-4566219	HRE	kidney:	n/a
20	chr11:4566169-4566219	HEK293	kidney:	embryo
21	chr11:4565489-4565539	GM19239	blood:	n/a
22	chr11:4565489-4565539	HRPEpiC	eye:	n/a
23	chr11:4566169-4566219	HepG2	liver:	n/a
24	chr11:4566380-4566430	NB4	blood:	n/a
25	chr11:4566853-4566903	ECC-1	luminal epithelium:	n/a
26	chr11:4565489-4565539	HUVEC	blood vessel:	n/a
27	chr11:4565475-4565525	AG09309	skin:	n/a
28	chr11:4565489-4565539	HMEC	breast:	n/a
29	chr11:4565489-4565539	HIPEpiC	eye:	n/a
30	chr11:4565475-4565525	AoSMC	blood vessel:	n/a
31	chr11:4565489-4565539	Caco-2	colon:	n/a
32	chr11:4566853-4566903	SKMC	muscle:	n/a
33	chr11:4566853-4566903	T-47D	breast:	n/a
34	chr11:4566380-4566430	HCF	heart:	n/a
35	chr11:4566380-4566430	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:4565475-4565525	SK-N-SH_RA	brain:	n/a
37	chr11:4566853-4566903	Jurkat	blood:	n/a
38	chr11:4566853-4566903	LNCaP	prostate:	n/a
39	chr11:4565475-4565525	SKMC	muscle:	n/a
40	chr11:4565475-4565525	HEEpiC	esophagus:	n/a
41	chr11:4565489-4565539	BJ	skin:	n/a
42	chr11:4566853-4566903	AG04450	lung:	fetal
43	chr11:4566169-4566219	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:4566169-4566219	T-47D	breast:	n/a
45	chr11:4565489-4565539	NHDF-neo	bronchial:	n/a
46	chr11:4566169-4566219	HEEpiC	esophagus:	n/a
47	chr11:4566169-4566219	MCF-7	breast:	n/a
48	chr11:4565489-4565539	SKMC	muscle:	n/a
49	chr11:4565489-4565539	ECC-1	luminal epithelium:	n/a
50	chr11:4566380-4566430	SK-N-MC	brain:	n/a

(count:16 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1683 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1683 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374567688	chr11:4529806-4529807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371040420	chr11:4529808-4529809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202026759	chr11:4529823-4529824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572707259	chr11:4529829-4529830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540074739	chr11:4529831-4529832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2464931	chr11:4529834-4529835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs201634651	chr11:4529860-4529861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552951446	chr11:4529861-4529862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140300284	chr11:4529862-4529863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79919137	chr11:4529864-4529865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534441197	chr11:4529874-4529875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541101413	chr11:4529904-4529905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151028101	chr11:4529912-4529913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542189002	chr11:4529919-4529920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182859687	chr11:4529940-4529941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77555575	chr11:4529955-4529956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79022753	chr11:4529958-4529959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564630233	chr11:4529969-4529970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528687700	chr11:4529975-4529976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79746639	chr11:4530009-4530010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547262939	chr11:4530040-4530041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141003653	chr11:4530043-4530044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188330891	chr11:4530049-4530050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2435538	chr11:4530066-4530067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568784052	chr11:4530075-4530076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539676125	chr11:4530091-4530092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200017645	chr11:4530110-4530111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147262136	chr11:4530111-4530112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111995074	chr11:4530140-4530141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72338793	chr11:4530141-4530142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557618521	chr11:4530149-4530150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4562821	chr11:4530153-4530154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4400801	chr11:4530155-4530156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192777811	chr11:4530156-4530157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2435539	chr11:4530168-4530169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs2898960	chr11:4530197-4530198	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184389353	chr11:4530202-4530203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2435540	chr11:4530233-4530234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533764280	chr11:4530266-4530267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369477746	chr11:4530267-4530268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189371653	chr11:4530268-4530269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560188858	chr11:4530301-4530302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150207402	chr11:4530343-4530344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2252061	chr11:4530363-4530364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2252060	chr11:4530372-4530373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2435541	chr11:4530447-4530448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540816150	chr11:4530475-4530476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149924714	chr11:4530552-4530553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372502689	chr11:4530553-4530554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192481096	chr11:4530557-4530558	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4529800-4530800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:4530000-4530400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:4530200-4530600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr11:4530800-4533000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:4531000-4531200	Enhancers	Colon Smooth Muscle	Colon
6	chr11:4531200-4531400	Enhancers	Stomach Smooth Muscle	stomach
7	chr11:4531400-4532600	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:4531400-4532800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:4531800-4534200	Enhancers	Ovary	ovary
10	chr11:4532000-4534000	Enhancers	Fetal Lung	lung
11	chr11:4532200-4533000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:4532400-4532800	Enhancers	Gastric	stomach
13	chr11:4532400-4533000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:4532600-4533600	Enhancers	Rectal Smooth Muscle	rectum
15	chr11:4532600-4535600	Enhancers	Colon Smooth Muscle	Colon
16	chr11:4532800-4533000	Enhancers	Stomach Smooth Muscle	stomach
17	chr11:4533000-4534000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:4533600-4534600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:4534000-4534200	Enhancers	Stomach Smooth Muscle	stomach
20	chr11:4534200-4536200	Weak transcription	Ovary	ovary
21	chr11:4535200-4535400	Enhancers	Rectal Smooth Muscle	rectum
22	chr11:4535200-4535600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr11:4536200-4536400	Enhancers	Ovary	ovary
24	chr11:4542800-4544200	Enhancers	Primary T cells from cord blood	blood
25	chr11:4544600-4545600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:4544800-4545400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:4548200-4548600	Enhancers	Esophagus	oesophagus
28	chr11:4552800-4553000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:4552800-4553200	Enhancers	Placenta	Placenta
30	chr11:4552800-4553200	Active TSS	Stomach Smooth Muscle	stomach
31	chr11:4552800-4553400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:4552800-4553400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr11:4552800-4553400	Enhancers	Esophagus	oesophagus
34	chr11:4564600-4565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:4564600-4565200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:4564600-4565400	Enhancers	HUVEC	blood vessel
37	chr11:4564600-4565400	Enhancers	NHEK	skin
38	chr11:4564800-4565200	Enhancers	A549	lung
39	chr11:4564800-4565400	Enhancers	HMEC	breast
40	chr11:4566600-4569800	Enhancers	Liver	Liver
41	chr11:4567200-4568800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:4567600-4569400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr11:4567800-4569200	Enhancers	Fetal Intestine Small	intestine
44	chr11:4567800-4569400	Enhancers	Fetal Intestine Large	intestine
45	chr11:4568000-4568400	Enhancers	Stomach Mucosa	stomach
46	chr11:4568000-4569400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:4568400-4568600	Enhancers	Gastric	stomach
48	chr11:4568600-4569200	Enhancers	Small Intestine	intestine
49	chr11:4568600-4580600	Weak transcription	Gastric	stomach
50	chr11:4572000-4572400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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