Variant report

Variant	nsv1045940
Chromosome Location	chr11:4973083-4987007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:306)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:4982222-4982408	K562	blood:	n/a	n/a
2	ATF3	chr11:4982190-4982479	K562	blood:	n/a	n/a
3	CEBPB	chr11:4982771-4982949	A549	lung:	n/a	chr11:4982850-4982861
4	CEBPB	chr11:4982745-4982919	K562	blood:	n/a	chr11:4982850-4982861
5	CEBPB	chr11:4979504-4979744	HepG2	liver:	n/a	chr11:4979638-4979649
6	CEBPB	chr11:4982737-4982970	HepG2	liver:	n/a	chr11:4982850-4982861
7	FOS	chr11:4982121-4982498	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:4982121-4982473	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:4982119-4982499	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:4982121-4982477	MCF10A-Er-Src	breast:	n/a	n/a
11	JUN	chr11:4982152-4982469	HUVEC	blood vessel:	n/a	n/a
12	JUN	chr11:4982165-4982468	K562	blood:	n/a	n/a
13	JUN	chr11:4982002-4982658	K562	blood:	n/a	n/a
14	JUN	chr11:4982167-4982496	HepG2	liver:	n/a	n/a
15	JUND	chr11:4982119-4982499	Hela-S3	cervix:	n/a	chr11:4982304-4982315
16	JUND	chr11:4982129-4982499	HepG2	liver:	n/a	chr11:4982304-4982315
17	JUND	chr11:4982132-4982481	K562	blood:	n/a	chr11:4982304-4982315
18	JUND	chr11:4982087-4982521	SK-N-SH	brain:	n/a	chr11:4982304-4982315
19	KAP1	chr11:4982103-4982718	U2OS	brain:	n/a	n/a
20	MAFF	chr11:4982217-4982433	HepG2	liver:	n/a	chr11:4982297-4982315
21	MAFF	chr11:4982160-4982432	K562	blood:	n/a	chr11:4982297-4982315
22	MAFK	chr11:4982171-4982382	HepG2	liver:	n/a	n/a
23	NRF1	chr11:4978726-4978785	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:4976117-4976238	Gliobla	brain:	n/a	n/a
25	POLR2A	chr11:4982196-4982265	MCF10A-Er-Src	breast:	n/a	n/a
26	RFX5	chr11:4973587-4973657	K562	blood:	n/a	n/a
27	RFX5	chr11:4982683-4982763	K562	blood:	n/a	n/a
28	STAT3	chr11:4982236-4982423	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr11:4978312-4978424	MCF10A-Er-Src	breast:	n/a	n/a
30	ZNF384	chr11:4978824-4978886	K562	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	chr11:4977540-4977590	Hela-S3	cervix:	n/a
2	chr11:4977540-4977590	Hela-S3	cervix:	n/a
3	chr11:4977001-4977051	NH-A	brain:	n/a
4	chr11:4977540-4977590	HEEpiC	esophagus:	n/a
5	chr11:4977429-4977479	NH-A	brain:	n/a
6	chr11:4977001-4977051	AG04449	skin:	fetal
7	chr11:4977001-4977051	GM19239	blood:	n/a
8	chr11:4977001-4977051	HCF	heart:	n/a
9	chr11:4977924-4977974	AG04450	lung:	fetal
10	chr11:4977924-4977974	HCF	heart:	n/a
11	chr11:4977924-4977974	AoSMC	blood vessel:	n/a
12	chr11:4977540-4977590	GM12892	blood:	n/a
13	chr11:4977924-4977974	Hela-S3	cervix:	n/a
14	chr11:4977001-4977051	GM12891	blood:	n/a
15	chr11:4977924-4977974	PrEC	prostate:	n/a
16	chr11:4977540-4977590	SK-N-MC	brain:	n/a
17	chr11:4977924-4977974	ECC-1	luminal epithelium:	n/a
18	chr11:4977540-4977590	HepG2	liver:	n/a
19	chr11:4976263-4976313	NT2-D1	testis:	n/a
20	chr11:4977001-4977051	BJ	skin:	n/a
21	chr11:4977001-4977051	HNPCEpiC	eye:	n/a
22	chr11:4977924-4977974	A549	lung:	n/a
23	chr11:4977429-4977479	MCF-7	breast:	n/a
24	chr11:4977924-4977974	ProgFib	skin:	n/a
25	chr11:4976263-4976313	GM06990	blood:	n/a
26	chr11:4977429-4977479	GM19239	blood:	n/a
27	chr11:4977540-4977590	IMR90	lung:	fetal
28	chr11:4977001-4977051	LNCaP	prostate:	n/a
29	chr11:4977001-4977051	ovcar-3	ovarian:	n/a
30	chr11:4977924-4977974	H1-hESC	embryonic stem cell:	embryo
31	chr11:4977429-4977479	A549	lung:	n/a
32	chr11:4977540-4977590	HCT-116	colon:	n/a
33	chr11:4977429-4977479	HNPCEpiC	eye:	n/a
34	chr11:4977540-4977590	NH-A	brain:	n/a
35	chr11:4976263-4976313	BE2_C	brain:	n/a
36	chr11:4977001-4977051	SAEC	small airway:	n/a
37	chr11:4977924-4977974	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:4977429-4977479	SAEC	small airway:	n/a
39	chr11:4977924-4977974	HIPEpiC	eye:	n/a
40	chr11:4976263-4976313	MCF-7	breast:	n/a
41	chr11:4977429-4977479	K562	blood:	n/a
42	chr11:4977001-4977051	HIPEpiC	eye:	n/a
43	chr11:4977001-4977051	SK-N-SH	brain:	n/a
44	chr11:4976263-4976313	HUVEC	blood vessel:	n/a
45	chr11:4977001-4977051	MCF-7	breast:	n/a
46	chr11:4977429-4977479	AG04449	skin:	fetal
47	chr11:4977924-4977974	K562	blood:	n/a
48	chr11:4977924-4977974	AG09309	skin:	n/a
49	chr11:4977540-4977590	U87	brain:	n/a
50	chr11:4977001-4977051	AG10803	skin:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4789513-4794705..11:4979189-4988077	K562	blood:
2	11:4778081-4789138..11:4979189-4988077	K562	blood:

No data

Variant related genes	Relation type
OR51A4	TF binding region
OR51A2	TF binding region
OR51A4	CpG island
OR51A2	CpG island
ENSG00000167346	chromatin interactions
ENSG00000188069	chromatin interactions

Extended variants
information (count: 373 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542197274	chr11:4977001-4977002	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs117761997	chr11:4977002-4977003	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs560882161	chr11:4977013-4977014	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs10837027	chr11:4977026-4977027	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552767633	chr11:4977041-4977042	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs369762355	chr11:4977433-4977434	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs563653950	chr11:4977457-4977458	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs576044281	chr11:4977460-4977461	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs546197527	chr11:4977465-4977466	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs547131908	chr11:4977541-4977542	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs61880623	chr11:4977542-4977543	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs7131097	chr11:4977569-4977570	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528952615	chr11:4977578-4977579	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs377282942	chr11:4977581-4977582	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs185691026	chr11:4977935-4977936	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs2605307	chr11:4978315-4978316	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566691599	chr11:4978318-4978319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs527577049	chr11:4978340-4978341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs375892558	chr11:4978350-4978351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs181569765	chr11:4978379-4978380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs10082629	chr11:4978382-4978383	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7942178	chr11:4978422-4978423	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562251065	chr11:4978746-4978747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs376733140	chr11:4978852-4978853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs540854718	chr11:4978867-4978868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs183984022	chr11:4979223-4979224	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs187315963	chr11:4979272-4979273	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs192377523	chr11:4979280-4979281	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183274717	chr11:4979281-4979282	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs74052695	chr11:4979288-4979289	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74052697	chr11:4979292-4979293	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs74052698	chr11:4979308-4979309	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs371808724	chr11:4979329-4979330	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs114789824	chr11:4979332-4979333	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs187395317	chr11:4979335-4979336	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs139626660	chr11:4979337-4979338	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565409055	chr11:4979380-4979381	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs527811397	chr11:4979398-4979399	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs115576413	chr11:4979418-4979419	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566804920	chr11:4979420-4979421	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11602621	chr11:4979433-4979434	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548954339	chr11:4979437-4979438	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11600505	chr11:4979497-4979498	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191676439	chr11:4979498-4979499	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556512516	chr11:4979531-4979532	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs578142341	chr11:4979540-4979541	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs11600508	chr11:4979550-4979551	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs369211873	chr11:4979561-4979562	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs182687604	chr11:4979580-4979581	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs149736105	chr11:4979600-4979601	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4983800-4984200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:4986800-4987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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