Variant report

Variant	esv19187
Chromosome Location	chr11:4813583-4820635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:4815769-4815953	K562	blood:	n/a	n/a
2	CTCF	chr11:4820319-4820345	GM10248	blood:	n/a	n/a
3	MAZ	chr11:4817846-4817863	HepG2	liver:	n/a	n/a
4	MYC	chr11:4813856-4813946	MCF10A-Er-Src	breast:	n/a	n/a
5	NR2F2	chr11:4815654-4816007	K562	blood:	n/a	n/a
6	POLR2A	chr11:4815545-4815972	MCF10A-Er-Src	breast:	n/a	n/a
7	SETDB1	chr11:4820261-4820581	U2OS	brain:	n/a	n/a
8	SPI1	chr11:4819732-4819996	GM12891	blood:	n/a	n/a
9	STAT3	chr11:4813798-4813937	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr11:4814152-4814261	MCF10A-Er-Src	breast:	n/a	n/a
11	TAL1	chr11:4815711-4815971	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4820112-4824892..11:5527719-5533869	H1-hESC	embryonic stem cell:	embryo
2	chr11:4817686..4819750-chr11:4821906..4823690,2	K562	blood:
3	chr11:4789671..4792092-chr11:4812812..4815235,2	K562	blood:
4	11:4820112-4824892..11:5700314-5707362	K562	blood:
5	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
6	11:4820112-4824892..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
7	11:4820112-4824892..11:5018576-5020673	H1-hESC	embryonic stem cell:	embryo

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR52R1-1	chr11:4816146-4816514	NONHSAT017656
2	lnc-OR52R1-1	chr11:4815008-4815466	NONHSAT017656

No data

Variant related genes	Relation type
OR52Y1P	TF binding region
ENSG00000176798	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000175520	chromatin interactions
ENSG00000188069	chromatin interactions

Extended variants
information (count: 350 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144858801	chr11:4813598-4813599	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs571209483	chr11:4813625-4813626	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs532318676	chr11:4813633-4813634	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547257623	chr11:4813634-4813635	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs76899747	chr11:4813680-4813681	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73401046	chr11:4813737-4813738	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79592161	chr11:4813755-4813756	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562818988	chr11:4813794-4813795	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567465682	chr11:4813798-4813799	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs538315425	chr11:4813817-4813818	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556317363	chr11:4813852-4813853	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs1433911	chr11:4813884-4813885	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs180872427	chr11:4813921-4813922	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1433912	chr11:4813927-4813928	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564543021	chr11:4813938-4813939	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs35983637	chr11:4813961-4813962	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572768776	chr11:4813966-4813967	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564732833	chr11:4813980-4813981	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561447518	chr11:4813990-4813991	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs531343422	chr11:4814043-4814044	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372064047	chr11:4814116-4814117	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs367730791	chr11:4814159-4814160	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543467952	chr11:4814161-4814162	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564747832	chr11:4814176-4814177	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs532082705	chr11:4814181-4814182	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547297374	chr11:4814182-4814183	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547194344	chr11:4814183-4814184	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs386750055	chr11:4814204-4814205	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs2412431	chr11:4814206-4814207	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553782823	chr11:4814217-4814218	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532899739	chr11:4814218-4814219	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569816729	chr11:4814220-4814221	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs75944066	chr11:4814244-4814245	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs10836652	chr11:4814246-4814247	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571560854	chr11:4814263-4814264	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569954114	chr11:4814315-4814316	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs539065162	chr11:4814316-4814317	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554207466	chr11:4814319-4814320	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572807276	chr11:4814321-4814322	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538978389	chr11:4814360-4814361	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs186117378	chr11:4814397-4814398	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551749379	chr11:4814442-4814443	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs1991887	chr11:4814479-4814480	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555220306	chr11:4814486-4814487	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs192030794	chr11:4814495-4814496	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534263409	chr11:4814496-4814497	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs115871956	chr11:4814519-4814520	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148580466	chr11:4814525-4814526	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12806140	chr11:4814543-4814544	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142814489	chr11:4814549-4814550	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4815400-4816200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:4815800-4816000	Enhancers	Small Intestine	intestine
3	chr11:4816200-4820200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:4816400-4816600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:4816400-4816800	Enhancers	Gastric	stomach
6	chr11:4816800-4817000	Weak transcription	Gastric	stomach
7	chr11:4817000-4817400	Enhancers	Gastric	stomach
8	chr11:4817200-4817400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:4817400-4821200	Weak transcription	Gastric	stomach
10	chr11:4817600-4817800	Enhancers	Stomach Mucosa	stomach
11	chr11:4818000-4818800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:4818600-4818800	Enhancers	Stomach Mucosa	stomach
13	chr11:4820200-4820400	Enhancers	Stomach Mucosa	stomach
14	chr11:4820200-4821000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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