Variant report

Variant	nsv982920
Chromosome Location	chr11:4376811-4394779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:490)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:4390381-4390439	K562	blood:	n/a	n/a
2	CEBPB	chr11:4389257-4389322	K562	blood:	n/a	n/a
3	CEBPB	chr11:4389067-4389386	HepG2	liver:	n/a	n/a
4	CTCF	chr11:4385357-4385434	LNCaP	prostate:	n/a	n/a
5	CTCF	chr11:4384174-4384208	GM10248	blood:	n/a	n/a
6	CTCF	chr11:4385350-4385351	LNCaP	prostate:	n/a	n/a
7	CTCF	chr11:4386122-4386203	GM10248	blood:	n/a	n/a
8	MAFK	chr11:4393791-4393820	HepG2	liver:	n/a	n/a
9	MAX	chr11:4392594-4392790	NB4	blood:	n/a	chr11:4392639-4392649
10	MXI1	chr11:4393790-4393835	GM12878	blood:	n/a	n/a
11	MYC	chr11:4389158-4389346	K562	blood:	n/a	n/a
12	POLR2A	chr11:4377507-4377636	ProgFib	skin:	n/a	n/a
13	POLR2A	chr11:4389240-4389347	A549	lung:	n/a	n/a
14	POLR2A	chr11:4392977-4393002	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:4393623-4393718	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr11:4387972-4388075	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr11:4392846-4392959	MCF10A-Er-Src	breast:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4390195-4390245	AoSMC	blood vessel:	n/a
2	chr11:4390240-4390290	RPTEC	kidney:	n/a
3	chr11:4390195-4390245	AoSMC	blood vessel:	n/a
4	chr11:4390240-4390290	RPTEC	kidney:	n/a
5	chr11:4390240-4390290	HMEC	breast:	n/a
6	chr11:4390240-4390290	HEK293	kidney:	embryo
7	chr11:4388493-4388543	HL-60	blood:	n/a
8	chr11:4390263-4390313	SK-N-SH_RA	brain:	n/a
9	chr11:4390240-4390290	HAEpiC	amniotic membrane:	n/a
10	chr11:4388493-4388543	NH-A	brain:	n/a
11	chr11:4390263-4390313	NHBE	bronchial:	n/a
12	chr11:4390195-4390245	ovcar-3	ovarian:	n/a
13	chr11:4389856-4389906	AG04449	skin:	fetal
14	chr11:4389856-4389906	BE2_C	brain:	n/a
15	chr11:4390263-4390313	AoSMC	blood vessel:	n/a
16	chr11:4390263-4390313	IMR90	lung:	fetal
17	chr11:4390195-4390245	HPAEpiC	pulmonary alveolar:	n/a
18	chr11:4390263-4390313	GM19239	blood:	n/a
19	chr11:4389638-4389688	NHDF-neo	bronchial:	n/a
20	chr11:4390240-4390290	HUVEC	blood vessel:	n/a
21	chr11:4388493-4388543	ovcar-3	ovarian:	n/a
22	chr11:4390240-4390290	ProgFib	skin:	n/a
23	chr11:4389856-4389906	HL-60	blood:	n/a
24	chr11:4390195-4390245	PANC-1	pancreas:	n/a
25	chr11:4389856-4389906	HUVEC	blood vessel:	n/a
26	chr11:4390263-4390313	AG09319	gingival:	n/a
27	chr11:4390263-4390313	HUVEC	blood vessel:	n/a
28	chr11:4388493-4388543	Caco-2	colon:	n/a
29	chr11:4390195-4390245	HIPEpiC	eye:	n/a
30	chr11:4390263-4390313	LNCaP	prostate:	n/a
31	chr11:4390240-4390290	NHDF-neo	bronchial:	n/a
32	chr11:4388493-4388543	K562	blood:	n/a
33	chr11:4389638-4389688	SAEC	small airway:	n/a
34	chr11:4390240-4390290	HCT-116	colon:	n/a
35	chr11:4389757-4389807	NB4	blood:	n/a
36	chr11:4389408-4389458	AG10803	skin:	n/a
37	chr11:4390240-4390290	PFSK-1	brain:	n/a
38	chr11:4390195-4390245	ProgFib	skin:	n/a
39	chr11:4390240-4390290	PrEC	prostate:	n/a
40	chr11:4388493-4388543	GM19239	blood:	n/a
41	chr11:4389856-4389906	MCF-7	breast:	n/a
42	chr11:4390263-4390313	NB4	blood:	n/a
43	chr11:4390195-4390245	SAEC	small airway:	n/a
44	chr11:4390195-4390245	HMEC	breast:	n/a
45	chr11:4389408-4389458	U87	brain:	n/a
46	chr11:4389638-4389688	HCT-116	colon:	n/a
47	chr11:4390195-4390245	GM12892	blood:	n/a
48	chr11:4389856-4389906	HRCEpiC	kidney:	n/a
49	chr11:4389757-4389807	CMK	blood:	n/a
50	chr11:4390263-4390313	T-47D	breast:	n/a

No data

Variant related genes	Relation type
OR52B3P	TF binding region
OR52B4	TF binding region
OR52B3P	CpG island
OR52B4	CpG island

Extended variants
information (count: 71 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375856925	chr11:4389208-4389209	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78905582	chr11:4389209-4389210	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555459824	chr11:4389210-4389211	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574126653	chr11:4389214-4389215	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200795232	chr11:4389233-4389234	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs267602877	chr11:4389234-4389235	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372176087	chr11:4389249-4389250	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186519914	chr11:4389257-4389258	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367923959	chr11:4389258-4389259	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376308749	chr11:4389261-4389262	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371411378	chr11:4389288-4389289	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375735780	chr11:4389292-4389293	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201832053	chr11:4389295-4389296	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190942772	chr11:4389296-4389297	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201122324	chr11:4389342-4389343	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375237440	chr11:4389344-4389345	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554653438	chr11:4389346-4389347	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200377861	chr11:4389361-4389362	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200744522	chr11:4389363-4389364	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574488965	chr11:4389394-4389395	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201331071	chr11:4389405-4389406	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs398075683	chr11:4389406-4389407	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs397699893	chr11:4389407-4389408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567146448	chr11:4389409-4389410	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531473479	chr11:4389426-4389427	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376516768	chr11:4389433-4389434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549908642	chr11:4389447-4389448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs370596800	chr11:4389461-4389462	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200393131	chr11:4389463-4389464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs372696504	chr11:4389485-4389486	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572176592	chr11:4389492-4389493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs571315992	chr11:4389506-4389507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs199790095	chr11:4389564-4389565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181012253	chr11:4389576-4389577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7929171	chr11:4389587-4389588	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4910623	chr11:4389639-4389640	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs544153999	chr11:4389681-4389682	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs186319523	chr11:4389757-4389758	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs114486660	chr11:4389774-4389775	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs559508891	chr11:4389877-4389878	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs115358074	chr11:4389901-4389902	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs541920619	chr11:4390196-4390197	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs114881913	chr11:4390214-4390215	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs200273711	chr11:4390223-4390224	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs577745103	chr11:4390240-4390241	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs538741776	chr11:4390261-4390262	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs554382918	chr11:4390269-4390270	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs187547056	chr11:4390437-4390438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs556521729	chr11:4392603-4392604	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182065097	chr11:4392626-4392627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4389200-4389400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:4389200-4389600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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