Variant report

Variant	nsv1046196
Chromosome Location	chr11:4961506-4995448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:306)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

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	chr11:4982737-4982970	HepG2	liver:	n/a	chr11:4982850-4982861
5	CEBPB	chr11:4982771-4982949	A549	lung:	n/a	chr11:4982850-4982861
6	CEBPB	chr11:4994751-4994825	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:4982745-4982919	K562	blood:	n/a	chr11:4982850-4982861
8	CEBPB	chr11:4979504-4979744	HepG2	liver:	n/a	chr11:4979638-4979649
9	CTCF	chr11:4991600-4991750	Caco-2	colon:	n/a	n/a
10	CTCF	chr11:4968105-4968165	GM13977	blood:	n/a	n/a
11	CTCF	chr11:4992860-4993010	GM06990	blood:	n/a	n/a
12	CTCF	chr11:4968209-4968232	GM13976	blood:	n/a	n/a
13	E2F4	chr11:4968807-4969062	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	chr11:4982121-4982498	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:4982119-4982499	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:4982121-4982473	MCF10A-Er-Src	breast:	n/a	n/a
19	JUN	chr11:4982167-4982496	HepG2	liver:	n/a	n/a
20	JUN	chr11:4982165-4982468	K562	blood:	n/a	n/a
21	JUN	chr11:4989053-4989113	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUN	chr11:4982152-4982469	HUVEC	blood vessel:	n/a	n/a
23	JUN	chr11:4982002-4982658	K562	blood:	n/a	n/a
24	JUND	chr11:4982087-4982521	SK-N-SH	brain:	n/a	chr11:4982304-4982315
25	JUND	chr11:4982119-4982499	Hela-S3	cervix:	n/a	chr11:4982304-4982315
26	JUND	chr11:4982132-4982481	K562	blood:	n/a	chr11:4982304-4982315
27	JUND	chr11:4982129-4982499	HepG2	liver:	n/a	chr11:4982304-4982315
28	KAP1	chr11:4982103-4982718	U2OS	brain:	n/a	n/a
29	KAT2A	chr11:4994908-4995108	GM12878	blood:	n/a	n/a
30	MAFF	chr11:4982217-4982433	HepG2	liver:	n/a	chr11:4982297-4982315
31	MAFF	chr11:4982160-4982432	K562	blood:	n/a	chr11:4982297-4982315
32	MAFK	chr11:4982171-4982382	HepG2	liver:	n/a	n/a
33	MAFK	chr11:4963732-4964011	HepG2	liver:	n/a	n/a
34	MXI1	chr11:4966553-4966586	GM12878	blood:	n/a	n/a
35	MYC	chr11:4994445-4994592	MCF10A-Er-Src	breast:	n/a	n/a
36	NRF1	chr11:4978726-4978785	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:4976117-4976238	Gliobla	brain:	n/a	n/a
38	POLR2A	chr11:4968696-4968712	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:4972318-4972755	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr11:4995363-4995415	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:4982196-4982265	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:4970236-4970356	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:4963376-4963576	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:4971691-4971713	MCF10A-Er-Src	breast:	n/a	n/a
45	RFX5	chr11:4972790-4972792	K562	blood:	n/a	n/a
46	RFX5	chr11:4973587-4973657	K562	blood:	n/a	n/a
47	RFX5	chr11:4982683-4982763	K562	blood:	n/a	n/a
48	STAT3	chr11:4988723-4988923	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr11:4978312-4978424	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr11:4971311-4971511	MCF10A-Er-Src	breast:	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	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:4977540-4977590	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:4976263-4976313	HUVEC	blood vessel:	n/a
4	chr11:4977924-4977974	HEK293	kidney:	embryo
5	chr11:4976263-4976313	SKMC	muscle:	n/a
6	chr11:4977540-4977590	HUVEC	blood vessel:	n/a
7	chr11:4977429-4977479	U87	brain:	n/a
8	chr11:4977540-4977590	T-47D	breast:	n/a
9	chr11:4977001-4977051	U87	brain:	n/a
10	chr11:4977001-4977051	T-47D	breast:	n/a
11	chr11:4977540-4977590	PFSK-1	brain:	n/a
12	chr11:4977429-4977479	GM12891	blood:	n/a
13	chr11:4977001-4977051	ECC-1	luminal epithelium:	n/a
14	chr11:4977540-4977590	SK-N-SH	brain:	n/a
15	chr11:4977924-4977974	GM12892	blood:	n/a
16	chr11:4976263-4976313	AG10803	skin:	n/a
17	chr11:4976263-4976313	HEK293	kidney:	embryo
18	chr11:4977001-4977051	AG09309	skin:	n/a
19	chr11:4977540-4977590	HMEC	breast:	n/a
20	chr11:4977001-4977051	GM12878	blood:	n/a
21	chr11:4977001-4977051	LNCaP	prostate:	n/a
22	chr11:4977540-4977590	AG04449	skin:	fetal
23	chr11:4977429-4977479	NB4	blood:	n/a
24	chr11:4977429-4977479	NHBE	bronchial:	n/a
25	chr11:4976263-4976313	AoSMC	blood vessel:	n/a
26	chr11:4977924-4977974	GM12878	blood:	n/a
27	chr11:4977540-4977590	U87	brain:	n/a
28	chr11:4977540-4977590	SK-N-MC	brain:	n/a
29	chr11:4977924-4977974	RPTEC	kidney:	n/a
30	chr11:4976263-4976313	CMK	blood:	n/a
31	chr11:4976263-4976313	HRE	kidney:	n/a
32	chr11:4977429-4977479	GM19239	blood:	n/a
33	chr11:4977429-4977479	T-47D	breast:	n/a
34	chr11:4976263-4976313	HepG2	liver:	n/a
35	chr11:4977429-4977479	AoSMC	blood vessel:	n/a
36	chr11:4977540-4977590	HIPEpiC	eye:	n/a
37	chr11:4977924-4977974	HRE	kidney:	n/a
38	chr11:4977429-4977479	GM12878	blood:	n/a
39	chr11:4977001-4977051	PFSK-1	brain:	n/a
40	chr11:4977540-4977590	ProgFib	skin:	n/a
41	chr11:4977429-4977479	HRPEpiC	eye:	n/a
42	chr11:4976263-4976313	PANC-1	pancreas:	n/a
43	chr11:4977001-4977051	HEK293	kidney:	embryo
44	chr11:4977001-4977051	H1-hESC	embryonic stem cell:	embryo
45	chr11:4977429-4977479	Jurkat	blood:	n/a
46	chr11:4977540-4977590	HNPCEpiC	eye:	n/a
47	chr11:4977001-4977051	HMEC	breast:	n/a
48	chr11:4977540-4977590	HCM	heart:	n/a
49	chr11:4977429-4977479	Hepatocyte	liver:	n/a
50	chr11:4977924-4977974	NB4	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4988858-5002113..11:5469844-5475173	Hela-S3	cervix:
2	11:4789513-4794705..11:4979189-4988077	K562	blood:
3	11:4988858-5002113..11:5243048-5250847	Hela-S3	cervix:
4	chr11:4987860..4989604-chr11:4992698..4994558,2	K562	blood:
5	chr11:4987860..4989604-chr11:4992698..4994558,2	K562	blood:
6	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
7	11:4988858-5002113..11:5600743-5604452	Hela-S3	cervix:
8	chr11:4990355..4993246-chr11:4998122..4999862,2	K562	blood:
9	11:4778081-4789138..11:4979189-4988077	K562	blood:
10	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:
11	11:4988858-5002113..11:5250847-5268367	Hela-S3	cervix:
12	11:4789513-4794705..11:4988858-5002113	Hela-S3	cervix:
13	11:4988858-5002113..11:5505728-5514500	Hela-S3	cervix:
14	11:4988858-5002113..11:5566274-5571131	Hela-S3	cervix:
15	11:4988858-5002113..11:5714465-5718134	Hela-S3	cervix:
16	11:4988858-5002113..11:5707362-5712027	Hela-S3	cervix:
17	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
18	11:4940074-4947279..11:4988858-5002113	Hela-S3	cervix:
19	11:4778081-4789138..11:4988858-5002113	Hela-S3	cervix:
20	11:4988858-5002113..11:5527719-5533869	Hela-S3	cervix:

No data

Variant related genes	Relation type
OR51A5P	TF binding region
OR51A2	TF binding region
OR51A3P	TF binding region
OR51A4	TF binding region
OR51A5P	CpG island
OR51A2	CpG island
OR51A3P	CpG island
OR51A4	CpG island
ENSG00000181616	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000181609	chromatin interactions
ENSG00000244734	chromatin interactions
ENSG00000187747	chromatin interactions
ENSG00000176879	chromatin interactions
ENSG00000221031	chromatin interactions
ENSG00000187918	chromatin interactions
ENSG00000167346	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000175520	chromatin interactions

Extended variants
information (count: 767 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141657567	chr11:4961521-4961522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs17339295	chr11:4961547-4961548	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs564351432	chr11:4961556-4961557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146205551	chr11:4961581-4961582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182420952	chr11:4961589-4961590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568776859	chr11:4961609-4961610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536107026	chr11:4961625-4961626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550942534	chr11:4961635-4961636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569426806	chr11:4961636-4961637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561158198	chr11:4961646-4961647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2596003	chr11:4961692-4961693	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139928298	chr11:4961736-4961737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572823415	chr11:4961756-4961757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186537467	chr11:4961757-4961758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554903153	chr11:4961802-4961803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573644769	chr11:4961819-4961820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192066351	chr11:4961845-4961846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368117532	chr11:4961867-4961868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562575645	chr11:4961877-4961878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112326220	chr11:4961887-4961888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2595997	chr11:4963240-4963241	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554052499	chr11:4963270-4963271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111566078	chr11:4963314-4963315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201626472	chr11:4963320-4963321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs2442428	chr11:4963340-4963341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs190847594	chr11:4963346-4963347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572256108	chr11:4963355-4963356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs540761119	chr11:4963358-4963359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs555922391	chr11:4963360-4963361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs530858481	chr11:4963420-4963421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs2605299	chr11:4963476-4963477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574148252	chr11:4963482-4963483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs544603571	chr11:4963503-4963504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs562694548	chr11:4963507-4963508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2605300	chr11:4963791-4963792	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551460158	chr11:4963814-4963815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs368283347	chr11:4963831-4963832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs188344690	chr11:4963901-4963902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs531261108	chr11:4964003-4964004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs572363344	chr11:4964327-4964328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs536014430	chr11:4964328-4964329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs542815369	chr11:4964331-4964332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs375213019	chr11:4964358-4964359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561141550	chr11:4964367-4964368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs2595994	chr11:4964374-4964375	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs543170556	chr11:4968810-4968811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs535966790	chr11:4968863-4968864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560829520	chr11:4968904-4968905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs386750078	chr11:4968934-4968935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs11034839	chr11:4968936-4968937	Inactive region	TF binding region	1 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
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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