Variant report

Variant	esv2757419
Chromosome Location	chr11:4961913-4992282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:305)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 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	CCNT2	chr11:4964325-4964404	K562	blood:	n/a	n/a
4	CEBPB	chr11:4982771-4982949	A549	lung:	n/a	chr11:4982850-4982861
5	CEBPB	chr11:4982737-4982970	HepG2	liver:	n/a	chr11:4982850-4982861
6	CEBPB	chr11:4979504-4979744	HepG2	liver:	n/a	chr11:4979638-4979649
7	CEBPB	chr11:4982745-4982919	K562	blood:	n/a	chr11:4982850-4982861
8	CTCF	chr11:4968105-4968165	GM13977	blood:	n/a	n/a
9	CTCF	chr11:4991600-4991750	Caco-2	colon:	n/a	n/a
10	CTCF	chr11:4968209-4968232	GM13976	blood:	n/a	n/a
11	E2F4	chr11:4968807-4969062	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr11:4982121-4982498	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:4982119-4982499	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:4982121-4982477	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:4972687-4972856	HUVEC	blood vessel:	n/a	n/a
16	FOS	chr11:4982121-4982473	MCF10A-Er-Src	breast:	n/a	n/a
17	JUN	chr11:4982165-4982468	K562	blood:	n/a	n/a
18	JUN	chr11:4982152-4982469	HUVEC	blood vessel:	n/a	n/a
19	JUN	chr11:4989053-4989113	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUN	chr11:4982002-4982658	K562	blood:	n/a	n/a
21	JUN	chr11:4982167-4982496	HepG2	liver:	n/a	n/a
22	JUND	chr11:4982129-4982499	HepG2	liver:	n/a	chr11:4982304-4982315
23	JUND	chr11:4982087-4982521	SK-N-SH	brain:	n/a	chr11:4982304-4982315
24	JUND	chr11:4982119-4982499	Hela-S3	cervix:	n/a	chr11:4982304-4982315
25	JUND	chr11:4982132-4982481	K562	blood:	n/a	chr11:4982304-4982315
26	KAP1	chr11:4982103-4982718	U2OS	brain:	n/a	n/a
27	MAFF	chr11:4982217-4982433	HepG2	liver:	n/a	chr11:4982297-4982315
28	MAFF	chr11:4982160-4982432	K562	blood:	n/a	chr11:4982297-4982315
29	MAFK	chr11:4982171-4982382	HepG2	liver:	n/a	n/a
30	MAFK	chr11:4963732-4964011	HepG2	liver:	n/a	n/a
31	MXI1	chr11:4966553-4966586	GM12878	blood:	n/a	n/a
32	NRF1	chr11:4978726-4978785	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:4971691-4971713	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:4970236-4970356	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:4968696-4968712	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:4976117-4976238	Gliobla	brain:	n/a	n/a
37	POLR2A	chr11:4972318-4972755	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr11:4963376-4963576	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:4982196-4982265	MCF10A-Er-Src	breast:	n/a	n/a
40	RFX5	chr11:4982683-4982763	K562	blood:	n/a	n/a
41	RFX5	chr11:4972790-4972792	K562	blood:	n/a	n/a
42	RFX5	chr11:4973587-4973657	K562	blood:	n/a	n/a
43	STAT3	chr11:4988723-4988923	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr11:4971311-4971511	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr11:4978312-4978424	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr11:4982236-4982423	MCF10A-Er-Src	breast:	n/a	n/a
47	ZNF384	chr11:4963238-4963526	K562	blood:	n/a	n/a
48	ZNF384	chr11:4978824-4978886	K562	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	chr11:4976263-4976313	HIPEpiC	eye:	n/a
2	chr11:4977001-4977051	SKMC	muscle:	n/a
3	chr11:4977924-4977974	Hepatocyte	liver:	n/a
4	chr11:4977924-4977974	GM12891	blood:	n/a
5	chr11:4977540-4977590	GM06990	blood:	n/a
6	chr11:4977540-4977590	HNPCEpiC	eye:	n/a
7	chr11:4976263-4976313	SKMC	muscle:	n/a
8	chr11:4977924-4977974	T-47D	breast:	n/a
9	chr11:4977429-4977479	SK-N-MC	brain:	n/a
10	chr11:4977540-4977590	A549	lung:	n/a
11	chr11:4977540-4977590	GM19239	blood:	n/a
12	chr11:4977924-4977974	HRCEpiC	kidney:	n/a
13	chr11:4977924-4977974	PANC-1	pancreas:	n/a
14	chr11:4977540-4977590	AoSMC	blood vessel:	n/a
15	chr11:4977540-4977590	HRE	kidney:	n/a
16	chr11:4977924-4977974	Caco-2	colon:	n/a
17	chr11:4977429-4977479	LNCaP	prostate:	n/a
18	chr11:4977924-4977974	GM19239	blood:	n/a
19	chr11:4977924-4977974	SKMC	muscle:	n/a
20	chr11:4977429-4977479	RPTEC	kidney:	n/a
21	chr11:4977924-4977974	RPTEC	kidney:	n/a
22	chr11:4976263-4976313	T-47D	breast:	n/a
23	chr11:4976263-4976313	NH-A	brain:	n/a
24	chr11:4977924-4977974	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:4976263-4976313	ovcar-3	ovarian:	n/a
26	chr11:4977429-4977479	NHBE	bronchial:	n/a
27	chr11:4977001-4977051	NHBE	bronchial:	n/a
28	chr11:4976263-4976313	U87	brain:	n/a
29	chr11:4976263-4976313	HEK293	kidney:	embryo
30	chr11:4977540-4977590	HAEpiC	amniotic membrane:	n/a
31	chr11:4977001-4977051	PANC-1	pancreas:	n/a
32	chr11:4976263-4976313	HepG2	liver:	n/a
33	chr11:4977001-4977051	IMR90	lung:	fetal
34	chr11:4977924-4977974	HCF	heart:	n/a
35	chr11:4977924-4977974	AG09309	skin:	n/a
36	chr11:4977540-4977590	MCF10A-Er-Src	breast:	n/a
37	chr11:4977924-4977974	GM12878	blood:	n/a
38	chr11:4976263-4976313	SK-N-SH_RA	brain:	n/a
39	chr11:4977540-4977590	PANC-1	pancreas:	n/a
40	chr11:4977924-4977974	SK-N-SH	brain:	n/a
41	chr11:4977429-4977479	HCM	heart:	n/a
42	chr11:4977429-4977479	ovcar-3	ovarian:	n/a
43	chr11:4977001-4977051	NH-A	brain:	n/a
44	chr11:4977540-4977590	MCF-7	breast:	n/a
45	chr11:4977429-4977479	A549	lung:	n/a
46	chr11:4977001-4977051	HEEpiC	esophagus:	n/a
47	chr11:4977540-4977590	BJ	skin:	n/a
48	chr11:4977001-4977051	BE2_C	brain:	n/a
49	chr11:4976263-4976313	NHBE	bronchial:	n/a
50	chr11:4977924-4977974	AoSMC	blood vessel:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
2	11:4778081-4789138..11:4979189-4988077	K562	blood:
3	11:4940074-4947279..11:4988858-5002113	Hela-S3	cervix:
4	chr11:4990355..4993246-chr11:4998122..4999862,2	K562	blood:
5	11:4988858-5002113..11:5527719-5533869	Hela-S3	cervix:
6	11:4988858-5002113..11:5707362-5712027	Hela-S3	cervix:
7	11:4789513-4794705..11:4979189-4988077	K562	blood:
8	chr11:4987860..4989604-chr11:4992698..4994558,2	K562	blood:
9	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:
10	11:4988858-5002113..11:5250847-5268367	Hela-S3	cervix:
11	11:4988858-5002113..11:5243048-5250847	Hela-S3	cervix:
12	11:4988858-5002113..11:5714465-5718134	Hela-S3	cervix:
13	11:4789513-4794705..11:4988858-5002113	Hela-S3	cervix:
14	11:4988858-5002113..11:5469844-5475173	Hela-S3	cervix:
15	11:4988858-5002113..11:5566274-5571131	Hela-S3	cervix:
16	11:4988858-5002113..11:5600743-5604452	Hela-S3	cervix:
17	11:4988858-5002113..11:5505728-5514500	Hela-S3	cervix:
18	11:4778081-4789138..11:4988858-5002113	Hela-S3	cervix:

No data

Variant related genes	Relation type
OR51A4	TF binding region
OR51A2	TF binding region
OR51A3P	TF binding region
OR51A4	CpG island
OR51A2	CpG island
OR51A3P	CpG island
ENSG00000132274	chromatin interactions
ENSG00000181609	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000187747	chromatin interactions
ENSG00000221031	chromatin interactions
ENSG00000187918	chromatin interactions
ENSG00000176879	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000181616	chromatin interactions
ENSG00000244734	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000167346	chromatin interactions
ENSG00000175520	chromatin interactions
ENSG00000188069	chromatin interactions

Extended variants
information (count: 624 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2595997	chr11:4963240-4963241	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554052499	chr11:4963270-4963271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs111566078	chr11:4963314-4963315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201626472	chr11:4963320-4963321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2442428	chr11:4963340-4963341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs190847594	chr11:4963346-4963347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572256108	chr11:4963355-4963356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540761119	chr11:4963358-4963359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs555922391	chr11:4963360-4963361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530858481	chr11:4963420-4963421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2605299	chr11:4963476-4963477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574148252	chr11:4963482-4963483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs544603571	chr11:4963503-4963504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562694548	chr11:4963507-4963508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs2605300	chr11:4963791-4963792	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551460158	chr11:4963814-4963815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368283347	chr11:4963831-4963832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs188344690	chr11:4963901-4963902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531261108	chr11:4964003-4964004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs572363344	chr11:4964327-4964328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs536014430	chr11:4964328-4964329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542815369	chr11:4964331-4964332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs375213019	chr11:4964358-4964359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs561141550	chr11:4964367-4964368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs2595994	chr11:4964374-4964375	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs543170556	chr11:4968810-4968811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs535966790	chr11:4968863-4968864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs560829520	chr11:4968904-4968905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs386750078	chr11:4968934-4968935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs11034839	chr11:4968936-4968937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs564865001	chr11:4968944-4968945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574875634	chr11:4968954-4968955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs77247381	chr11:4969016-4969017	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs567352445	chr11:4969054-4969055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs192277981	chr11:4970257-4970258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs34349082	chr11:4970311-4970312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs554899111	chr11:4970356-4970357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs368071730	chr11:4971321-4971322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs377394151	chr11:4971328-4971329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs374516119	chr11:4971381-4971382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538866613	chr11:4971439-4971440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530124167	chr11:4971448-4971449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs548250283	chr11:4971466-4971467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs11601099	chr11:4971701-4971702	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564061395	chr11:4972322-4972323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs7479956	chr11:4972337-4972338	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs72860806	chr11:4972385-4972386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs138449138	chr11:4972390-4972391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs10837014	chr11:4972421-4972422	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11034866	chr11:4972428-4972429	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 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
3	chr11:4987200-4988200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:4988200-4988400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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