Variant report

Variant	nsv524796
Chromosome Location	chr11:4682376-4687238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:62)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr11:4685872-4686269	K562	blood:	n/a	n/a
2	IRF1	chr11:4685972-4686002	K562	blood:	n/a	n/a
3	MAFK	chr11:4682973-4683244	HepG2	liver:	n/a	n/a
4	MAFK	chr11:4682974-4683188	IMR90	lung:	n/a	n/a
5	POLR2A	chr11:4682723-4682734	Gliobla	brain:	n/a	n/a
6	POLR2A	chr11:4685482-4685593	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF7L2	chr11:4683968-4684462	HEK293	kidney:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4686966-4687016	T-47D	breast:	n/a
2	chr11:4686966-4687016	T-47D	breast:	n/a
3	chr11:4686966-4687016	HRE	kidney:	n/a
4	chr11:4686966-4687016	SKMC	muscle:	n/a
5	chr11:4686966-4687016	BE2_C	brain:	n/a
6	chr11:4686966-4687016	Caco-2	colon:	n/a
7	chr11:4686966-4687016	ProgFib	skin:	n/a
8	chr11:4686966-4687016	NT2-D1	testis:	n/a
9	chr11:4686966-4687016	AG09319	gingival:	n/a
10	chr11:4686966-4687016	HUVEC	blood vessel:	n/a
11	chr11:4686966-4687016	HCT-116	colon:	n/a
12	chr11:4686966-4687016	ovcar-3	ovarian:	n/a
13	chr11:4686966-4687016	ECC-1	luminal epithelium:	n/a
14	chr11:4686966-4687016	HCF	heart:	n/a
15	chr11:4686966-4687016	SK-N-SH	brain:	n/a
16	chr11:4686966-4687016	NB4	blood:	n/a
17	chr11:4686966-4687016	HMEC	breast:	n/a
18	chr11:4686966-4687016	PANC-1	pancreas:	n/a
19	chr11:4686966-4687016	RPTEC	kidney:	n/a
20	chr11:4686966-4687016	HEK293	kidney:	embryo
21	chr11:4686966-4687016	HRCEpiC	kidney:	n/a
22	chr11:4686966-4687016	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:4686966-4687016	NHBE	bronchial:	n/a
24	chr11:4686966-4687016	U87	brain:	n/a
25	chr11:4686966-4687016	K562	blood:	n/a
26	chr11:4686966-4687016	HepG2	liver:	n/a
27	chr11:4686966-4687016	PFSK-1	brain:	n/a
28	chr11:4686966-4687016	SAEC	small airway:	n/a
29	chr11:4686966-4687016	MCF-7	breast:	n/a
30	chr11:4686966-4687016	GM12892	blood:	n/a
31	chr11:4686966-4687016	HAEpiC	amniotic membrane:	n/a
32	chr11:4686966-4687016	GM06990	blood:	n/a
33	chr11:4686966-4687016	PrEC	prostate:	n/a
34	chr11:4686966-4687016	LNCaP	prostate:	n/a
35	chr11:4686966-4687016	HRPEpiC	eye:	n/a
36	chr11:4686966-4687016	A549	lung:	n/a
37	chr11:4686966-4687016	IMR90	lung:	fetal
38	chr11:4686966-4687016	GM19239	blood:	n/a
39	chr11:4686966-4687016	BJ	skin:	n/a
40	chr11:4686966-4687016	HCM	heart:	n/a
41	chr11:4686966-4687016	Jurkat	blood:	n/a
42	chr11:4686966-4687016	HIPEpiC	eye:	n/a
43	chr11:4686966-4687016	AG04449	skin:	fetal
44	chr11:4686966-4687016	MCF10A-Er-Src	breast:	n/a
45	chr11:4686966-4687016	HEEpiC	esophagus:	n/a
46	chr11:4686966-4687016	Hela-S3	cervix:	n/a
47	chr11:4686966-4687016	HL-60	blood:	n/a
48	chr11:4686966-4687016	GM12891	blood:	n/a
49	chr11:4686966-4687016	AG10803	skin:	n/a
50	chr11:4686966-4687016	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4676620..4679350-chr11:4683230..4685666,3	K562	blood:

No data

Variant related genes	Relation type
OR51A9P	TF binding region
OR51A9P	CpG island

Extended variants
information (count: 227 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10768157	chr11:4682376-4682377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568767825	chr11:4682380-4682381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184163668	chr11:4682397-4682398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10768158	chr11:4682403-4682404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530968563	chr11:4682419-4682420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550763174	chr11:4682423-4682424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556957669	chr11:4682430-4682431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369705029	chr11:4682434-4682435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535094203	chr11:4682442-4682443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138381874	chr11:4682470-4682471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148861611	chr11:4682478-4682479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369734639	chr11:4682480-4682481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10768159	chr11:4682519-4682520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557394409	chr11:4682541-4682542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575976010	chr11:4682556-4682557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547012650	chr11:4682614-4682615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558310655	chr11:4682658-4682659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573406273	chr11:4682680-4682681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561960095	chr11:4682691-4682692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561590413	chr11:4682732-4682733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11033231	chr11:4682733-4682734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543779781	chr11:4682762-4682763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562157974	chr11:4682788-4682789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535150503	chr11:4682799-4682800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145359260	chr11:4682818-4682819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61741027	chr11:4682825-4682826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527532504	chr11:4682832-4682833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575415259	chr11:4682855-4682856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538010538	chr11:4682868-4682869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549170090	chr11:4682870-4682871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189542834	chr11:4682873-4682874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11033233	chr11:4682882-4682883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577949111	chr11:4682900-4682901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569303102	chr11:4682935-4682936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137912674	chr11:4682973-4682974	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs540124384	chr11:4682974-4682975	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs376922497	chr11:4682984-4682985	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs11033234	chr11:4683062-4683063	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11033235	chr11:4683082-4683083	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530343047	chr11:4683113-4683114	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs11033236	chr11:4683114-4683115	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372205023	chr11:4683129-4683130	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs555952225	chr11:4683169-4683170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs573854898	chr11:4683176-4683177	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs10836436	chr11:4683196-4683197	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1156733	chr11:4683197-4683198	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370299155	chr11:4683249-4683250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11033237	chr11:4683298-4683299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545276957	chr11:4683316-4683317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560146774	chr11:4683326-4683327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4665800-4686600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:4680800-4684600	Weak transcription	Fetal Heart	heart
3	chr11:4684600-4685200	Enhancers	Fetal Heart	heart
4	chr11:4685200-4693000	Weak transcription	Fetal Heart	heart
5	chr11:4687000-4687600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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