Variant report

Variant	nsv896953
Chromosome Location	chr11:5862532-5954809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:360)
CpG islands
(count:1037)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:5912394-5912741	K562	blood:	n/a	n/a
2	ARID3A	chr11:5912497-5912707	HepG2	liver:	n/a	n/a
3	ATF1	chr11:5893901-5893919	K562	blood:	n/a	n/a
4	ATF1	chr11:5867958-5868232	K562	blood:	n/a	n/a
5	BACH1	chr11:5949537-5949904	K562	blood:	n/a	n/a
6	BACH1	chr11:5949390-5949949	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr11:5944353-5944624	GM12878	blood:	n/a	chr11:5944501-5944512
8	BATF	chr11:5944337-5944642	GM12878	blood:	n/a	chr11:5944501-5944512
9	BCL11A	chr11:5944350-5944565	GM12878	blood:	n/a	n/a
10	CEBPB	chr11:5872256-5872635	K562	blood:	n/a	n/a
11	CEBPB	chr11:5872260-5872623	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
13	CEBPB	chr11:5872237-5872619	K562	blood:	n/a	n/a
14	CEBPB	chr11:5872999-5873041	K562	blood:	n/a	n/a
15	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
16	CEBPB	chr11:5872262-5872604	IMR90	lung:	n/a	n/a
17	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
18	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
19	CEBPB	chr11:5872283-5872577	A549	lung:	n/a	n/a
20	CEBPB	chr11:5872276-5872519	HepG2	liver:	n/a	n/a
21	CEBPB	chr11:5872324-5872546	K562	blood:	n/a	n/a
22	CEBPB	chr11:5945178-5945285	K562	blood:	n/a	n/a
23	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
24	CTCF	chr11:5912540-5912690	K562	blood:	n/a	n/a
25	CTCF	chr11:5912420-5912570	HCT-116	colon:	n/a	n/a
26	CTCF	chr11:5912580-5912730	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr11:5912567-5912699	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr11:5913200-5913350	AG10803	skin:	n/a	n/a
29	CTCF	chr11:5912560-5912710	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr11:5912520-5912670	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr11:5912540-5912690	AG09309	skin:	n/a	n/a
32	CTCF	chr11:5912860-5913010	GM12864	blood:	n/a	n/a
33	CTCF	chr11:5912560-5912710	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr11:5912640-5912790	GM12865	blood:	n/a	n/a
35	CTCF	chr11:5912700-5912850	NB4	blood:	n/a	n/a
36	CTCF	chr11:5912498-5912742	Medullo	brain:	n/a	n/a
37	CTCF	chr11:5912560-5912710	AG10803	skin:	n/a	n/a
38	CTCF	chr11:5912860-5913010	GM12873	blood:	n/a	n/a
39	CTCF	chr11:5912600-5912750	GM12873	blood:	n/a	n/a
40	CTCF	chr11:5901160-5901310	WI-38	lung:	n/a	n/a
41	CTCF	chr11:5912520-5912670	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr11:5912906-5912912	Gliobla	brain:	n/a	n/a
43	CTCF	chr11:5912840-5912990	GM12865	blood:	n/a	n/a
44	CTCF	chr11:5912534-5912663	GM10248	blood:	n/a	n/a
45	CTCF	chr11:5912820-5912970	K562	blood:	n/a	n/a
46	CTCF	chr11:5912520-5912670	HEK293	kidney:	n/a	n/a
47	CTCF	chr11:5913016-5913092	LNCaP	prostate:	n/a	n/a
48	CTCF	chr11:5912560-5912710	NHEK	skin:	n/a	n/a
49	CTCF	chr11:5912520-5912670	HMEC	breast:	n/a	n/a
50	CTCF	chr11:5912560-5912710	AG04450	lung:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5951316-5951366	NHDF-neo	bronchial:	n/a
2	chr11:5951956-5952006	Hela-S3	cervix:	n/a
3	chr11:5862757-5862807	RPTEC	kidney:	n/a
4	chr11:5951433-5951483	MCF-7	breast:	n/a
5	chr11:5878019-5878069	HRCEpiC	kidney:	n/a
6	chr11:5878955-5879005	K562	blood:	n/a
7	chr11:5905350-5905400	SK-N-SH	brain:	n/a
8	chr11:5951316-5951366	HL-60	blood:	n/a
9	chr11:5951433-5951483	HepG2	liver:	n/a
10	chr11:5951360-5951410	HepG2	liver:	n/a
11	chr11:5905350-5905400	HL-60	blood:	n/a
12	chr11:5878958-5879008	HCT-116	colon:	n/a
13	chr11:5879799-5879849	LNCaP	prostate:	n/a
14	chr11:5952089-5952139	HL-60	blood:	n/a
15	chr11:5879799-5879849	NHDF-neo	bronchial:	n/a
16	chr11:5905350-5905400	BJ	skin:	n/a
17	chr11:5950357-5950407	SK-N-SH_RA	brain:	n/a
18	chr11:5950357-5950407	HRE	kidney:	n/a
19	chr11:5879799-5879849	PANC-1	pancreas:	n/a
20	chr11:5950798-5950848	Hepatocyte	liver:	n/a
21	chr11:5951956-5952006	K562	blood:	n/a
22	chr11:5950357-5950407	AG09309	skin:	n/a
23	chr11:5951048-5951098	PANC-1	pancreas:	n/a
24	chr11:5952089-5952139	ProgFib	skin:	n/a
25	chr11:5952089-5952139	GM12892	blood:	n/a
26	chr11:5951316-5951366	NB4	blood:	n/a
27	chr11:5905350-5905400	NH-A	brain:	n/a
28	chr11:5951316-5951366	BJ	skin:	n/a
29	chr11:5951433-5951483	PrEC	prostate:	n/a
30	chr11:5950798-5950848	HCPEpiC	choroid plexus:	n/a
31	chr11:5951048-5951098	GM06990	blood:	n/a
32	chr11:5951316-5951366	AoSMC	blood vessel:	n/a
33	chr11:5905892-5905942	ovcar-3	ovarian:	n/a
34	chr11:5951316-5951366	Jurkat	blood:	n/a
35	chr11:5905892-5905942	PANC-1	pancreas:	n/a
36	chr11:5951833-5951883	PFSK-1	brain:	n/a
37	chr11:5951956-5952006	BJ	skin:	n/a
38	chr11:5951956-5952006	T-47D	breast:	n/a
39	chr11:5950798-5950848	LNCaP	prostate:	n/a
40	chr11:5878955-5879005	Caco-2	colon:	n/a
41	chr11:5952089-5952139	Hepatocyte	liver:	n/a
42	chr11:5950798-5950848	ovcar-3	ovarian:	n/a
43	chr11:5905892-5905942	Caco-2	colon:	n/a
44	chr11:5878958-5879008	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:5878958-5879008	HIPEpiC	eye:	n/a
46	chr11:5878955-5879005	SKMC	muscle:	n/a
47	chr11:5951956-5952006	HNPCEpiC	eye:	n/a
48	chr11:5951360-5951410	GM12891	blood:	n/a
49	chr11:5862757-5862807	HepG2	liver:	n/a
50	chr11:5951833-5951883	HCT-116	colon:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
2	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
3	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:
4	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
5	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
6	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
7	chr11:5950723..5952254-chr7:153108526..153111145,2	K562	blood:
8	chr11:5624501..5627132-chr11:5864110..5866579,2	K562	blood:
9	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
10	chr11:5950724..5952240-chr7:153107809..153110032,4	K562	blood:
11	chr11:5952222..5953725-chr7:153106291..153108525,3	K562	blood:
12	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR52E4	TF binding region
TRIM5	TF binding region
OR52E8	TF binding region
OR52E7P	TF binding region
OR52E6	TF binding region
OR52E4	CpG island
TRIM5	CpG island
OR52E8	CpG island
OR52E7P	CpG island
OR52E6	CpG island
ENSG00000121236	chromatin interactions
ENSG00000234722	chromatin interactions
ENSG00000183269	chromatin interactions
ENSG00000233563	chromatin interactions
ENSG00000132256	chromatin interactions

Extended variants
information (count: 1325 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1325 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10742809	chr11:5862532-5862533	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199724169	chr11:5862566-5862567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369185989	chr11:5862588-5862589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs200669717	chr11:5862607-5862608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186181055	chr11:5862608-5862609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs117588627	chr11:5862612-5862613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191900000	chr11:5862618-5862619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7943698	chr11:5862619-5862620	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377318267	chr11:5862621-5862622	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs370635171	chr11:5862633-5862634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544618978	chr11:5862649-5862650	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs4357719	chr11:5862653-5862654	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs536337832	chr11:5862667-5862668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533328440	chr11:5862703-5862704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554722938	chr11:5862709-5862710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373651554	chr11:5862714-5862715	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200675437	chr11:5862717-5862718	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372198368	chr11:5862729-5862730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs10838719	chr11:5862731-5862732	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs368477824	chr11:5862754-5862755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs61737712	chr11:5862758-5862759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs267603030	chr11:5862777-5862778	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs4362172	chr11:5862780-5862781	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs371743507	chr11:5862783-5862784	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200729945	chr11:5862797-5862798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs370082903	chr11:5862807-5862808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs373050179	chr11:5862829-5862830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369883736	chr11:5862830-5862831	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368058371	chr11:5862835-5862836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145073549	chr11:5862836-5862837	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs267603031	chr11:5862844-5862845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs4592451	chr11:5862845-5862846	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201073329	chr11:5862869-5862870	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs183526065	chr11:5862872-5862873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369998923	chr11:5862880-5862881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs151316251	chr11:5862894-5862895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs202167540	chr11:5862897-5862898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139412237	chr11:5862898-5862899	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368548347	chr11:5862908-5862909	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371265942	chr11:5862928-5862929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4495918	chr11:5862937-5862938	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368112349	chr11:5862962-5862963	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs61739208	chr11:5862965-5862966	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs565704528	chr11:5862974-5862975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs10769272	chr11:5862984-5862985	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs367705230	chr11:5862989-5862990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs61737905	chr11:5862995-5862996	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575304106	chr11:5864145-5864146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545967231	chr11:5864151-5864152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4369440	chr11:5864177-5864178	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5862200-5863000	Active TSS	Brain Substantia Nigra	brain
2	chr11:5867400-5869000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:5868400-5869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:5869000-5869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:5869000-5869800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:5869800-5870000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:5927600-5927800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:5944000-5944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:5944000-5944600	Enhancers	A549	lung
18	chr11:5944000-5944800	Enhancers	GM12878-XiMat	blood
19	chr11:5944000-5945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:5944000-5945200	Enhancers	NHEK	skin
21	chr11:5944000-5945400	Enhancers	HMEC	breast
22	chr11:5944200-5945000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:5950800-5951600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:5952000-5953000	ZNF genes & repeats	Pancreas	Pancrea
25	chr11:5952800-5959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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