Variant report

Variant	nsv540922
Chromosome Location	chr11:4542923-4573320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:483)
CpG islands
(count:305)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:483 , 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	chr11:4544032-4544147	K562	blood:	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	chr11:4568337-4568455	HepG2	liver:	n/a	n/a
7	CTCF	chr11:4560920-4561070	GM12872	blood:	n/a	n/a
8	CTCF	chr11:4561000-4561150	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr11:4560980-4561130	HRE	kidney:	n/a	n/a
10	CTCF	chr11:4560940-4561090	RPTEC	kidney:	n/a	n/a
11	CTCF	chr11:4572999-4573093	GM10248	blood:	n/a	n/a
12	CTCF	chr11:4572960-4573110	GM12873	blood:	n/a	n/a
13	CTCF	chr11:4560960-4561110	GM12868	blood:	n/a	n/a
14	CTCF	chr11:4560960-4561110	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr11:4561040-4561190	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:4572900-4573050	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr11:4560939-4561193	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr11:4560882-4561248	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:4573040-4573190	HCM	heart:	n/a	n/a
20	CTCF	chr11:4560938-4561150	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr11:4572948-4573099	GM12892	blood:	n/a	n/a
22	CTCF	chr11:4572940-4573090	GM12871	blood:	n/a	n/a
23	CTCF	chr11:4561000-4561150	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr11:4572920-4573070	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr11:4572673-4572822	GM12891	blood:	n/a	n/a
26	CTCF	chr11:4572724-4572789	A549	lung:	n/a	n/a
27	CTCF	chr11:4560940-4561090	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:4572672-4572808	GM12892	blood:	n/a	n/a
29	CTCF	chr11:4573020-4573170	GM12878	blood:	n/a	n/a
30	CTCF	chr11:4572940-4573090	GM12870	blood:	n/a	n/a
31	CTCF	chr11:4572920-4573070	HRE	kidney:	n/a	n/a
32	CTCF	chr11:4573237-4573278	LNCaP	prostate:	n/a	n/a
33	CTCF	chr11:4572960-4573110	AG09319	gingival:	n/a	n/a
34	CTCF	chr11:4560520-4560670	SAEC	small airway:	n/a	n/a
35	CTCF	chr11:4572718-4572735	ProgFib	skin:	n/a	n/a
36	CTCF	chr11:4572940-4573132	A549	lung:	n/a	n/a
37	CTCF	chr11:4560940-4561090	HCFaa	heart:	n/a	n/a
38	CTCF	chr11:4572866-4573109	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr11:4560949-4561130	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:4573240-4573390	GM12864	blood:	n/a	n/a
41	CTCF	chr11:4572820-4572970	GM12868	blood:	n/a	n/a
42	CTCF	chr11:4560960-4561110	HEK293	kidney:	n/a	n/a
43	CTCF	chr11:4561000-4561150	AG09319	gingival:	n/a	n/a
44	CTCF	chr11:4560905-4561155	HepG2	liver:	n/a	n/a
45	CTCF	chr11:4572520-4572670	GM12870	blood:	n/a	n/a
46	CTCF	chr11:4561000-4561150	HCM	heart:	n/a	n/a
47	CTCF	chr11:4572943-4573110	GM19240	blood:	n/a	n/a
48	CTCF	chr11:4572960-4573110	A549	lung:	n/a	n/a
49	CTCF	chr11:4553060-4553210	HEK293	kidney:	n/a	n/a
50	CTCF	chr11:4572980-4573130	SK-N-SH_RA	brain:	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	Hela-S3	cervix:	n/a
2	chr11:4565489-4565539	HCM	heart:	n/a
3	chr11:4565475-4565525	SAEC	small airway:	n/a
4	chr11:4565475-4565525	AoSMC	blood vessel:	n/a
5	chr11:4565475-4565525	CMK	blood:	n/a
6	chr11:4566380-4566430	ECC-1	luminal epithelium:	n/a
7	chr11:4566853-4566903	AG10803	skin:	n/a
8	chr11:4566169-4566219	HCM	heart:	n/a
9	chr11:4566380-4566430	HCM	heart:	n/a
10	chr11:4566169-4566219	SKMC	muscle:	n/a
11	chr11:4566853-4566903	HAEpiC	amniotic membrane:	n/a
12	chr11:4566380-4566430	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:4565489-4565539	HCF	heart:	n/a
14	chr11:4565475-4565525	PrEC	prostate:	n/a
15	chr11:4565475-4565525	GM12878	blood:	n/a
16	chr11:4566853-4566903	HEK293	kidney:	embryo
17	chr11:4566169-4566219	HRE	kidney:	n/a
18	chr11:4565489-4565539	HEEpiC	esophagus:	n/a
19	chr11:4565489-4565539	NB4	blood:	n/a
20	chr11:4566380-4566430	T-47D	breast:	n/a
21	chr11:4566853-4566903	NB4	blood:	n/a
22	chr11:4566380-4566430	MCF10A-Er-Src	breast:	n/a
23	chr11:4565489-4565539	Hela-S3	cervix:	n/a
24	chr11:4565475-4565525	IMR90	lung:	fetal
25	chr11:4565475-4565525	HCPEpiC	choroid plexus:	n/a
26	chr11:4566169-4566219	MCF-7	breast:	n/a
27	chr11:4565475-4565525	ovcar-3	ovarian:	n/a
28	chr11:4566380-4566430	HCPEpiC	choroid plexus:	n/a
29	chr11:4566380-4566430	H1-hESC	embryonic stem cell:	embryo
30	chr11:4565475-4565525	BJ	skin:	n/a
31	chr11:4566853-4566903	MCF10A-Er-Src	breast:	n/a
32	chr11:4565475-4565525	PFSK-1	brain:	n/a
33	chr11:4565489-4565539	HUVEC	blood vessel:	n/a
34	chr11:4565489-4565539	AG10803	skin:	n/a
35	chr11:4566853-4566903	HEEpiC	esophagus:	n/a
36	chr11:4565475-4565525	NB4	blood:	n/a
37	chr11:4565489-4565539	AG04449	skin:	fetal
38	chr11:4566853-4566903	HepG2	liver:	n/a
39	chr11:4566169-4566219	BE2_C	brain:	n/a
40	chr11:4565489-4565539	ECC-1	luminal epithelium:	n/a
41	chr11:4566169-4566219	AG10803	skin:	n/a
42	chr11:4565489-4565539	H1-hESC	embryonic stem cell:	embryo
43	chr11:4566380-4566430	HCT-116	colon:	n/a
44	chr11:4565489-4565539	GM19239	blood:	n/a
45	chr11:4566853-4566903	GM12878	blood:	n/a
46	chr11:4565475-4565525	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:4566853-4566903	SK-N-SH	brain:	n/a
48	chr11:4566853-4566903	U87	brain:	n/a
49	chr11:4566169-4566219	PrEC	prostate:	n/a
50	chr11:4565475-4565525	GM06990	blood:	n/a

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

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

No data

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

Extended variants
information (count: 1024 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1024 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147218618	chr11:4542954-4542955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16907464	chr11:4543008-4543009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11032597	chr11:4543032-4543033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56186485	chr11:4543045-4543046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546984932	chr11:4543046-4543047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182841143	chr11:4543079-4543080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11032598	chr11:4543123-4543124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557632018	chr11:4543126-4543127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569488444	chr11:4543131-4543132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199945040	chr11:4543173-4543174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386750014	chr11:4543175-4543176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201144797	chr11:4543176-4543177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34860151	chr11:4543178-4543179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572572542	chr11:4543186-4543187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533656611	chr11:4543188-4543189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191174433	chr11:4543203-4543204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537094782	chr11:4543204-4543205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573278547	chr11:4543232-4543233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12285369	chr11:4543236-4543237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145440663	chr11:4543267-4543268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2566201	chr11:4543276-4543277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76218844	chr11:4543288-4543289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569391476	chr11:4543311-4543312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150202662	chr11:4543329-4543330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200699659	chr11:4543330-4543331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201395291	chr11:4543333-4543334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs67148073	chr11:4543334-4543335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200834967	chr11:4543336-4543337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527519980	chr11:4543408-4543409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs422310	chr11:4543415-4543416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547097397	chr11:4543440-4543441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555057614	chr11:4543486-4543487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573717069	chr11:4543491-4543492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74605647	chr11:4543514-4543515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77543635	chr11:4543516-4543517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs379420	chr11:4543542-4543543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs439436	chr11:4543545-4543546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2657150	chr11:4543561-4543562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540704988	chr11:4543565-4543566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539762814	chr11:4543568-4543569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2709133	chr11:4543586-4543587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs34375820	chr11:4543594-4543595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2566200	chr11:4543596-4543597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371159	chr11:4543603-4543604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534151452	chr11:4543604-4543605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115083887	chr11:4543616-4543617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs60461364	chr11:4543617-4543618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57628215	chr11:4543634-4543635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397944533	chr11:4543636-4543637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555040041	chr11:4543653-4543654	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:29 , 50 per page) page: 1

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

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