Variant report

Variant	esv3343122
Chromosome Location	chr11:55336626-55338574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr11:55337936-55337977	HepG2	liver:	n/a	chr11:55337957-55337975
2	MAFK	chr11:55337914-55337972	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55338135-55338185	Caco-2	colon:	n/a
2	chr11:55338135-55338185	GM12878	blood:	n/a
3	chr11:55338135-55338185	MCF-7	breast:	n/a
4	chr11:55338135-55338185	NH-A	brain:	n/a
5	chr11:55338135-55338185	K562	blood:	n/a
6	chr11:55338135-55338185	BJ	skin:	n/a
7	chr11:55338135-55338185	HRPEpiC	eye:	n/a
8	chr11:55338135-55338185	ECC-1	luminal epithelium:	n/a
9	chr11:55338135-55338185	HCM	heart:	n/a
10	chr11:55338135-55338185	AG04449	skin:	fetal
11	chr11:55338135-55338185	HIPEpiC	eye:	n/a
12	chr11:55338135-55338185	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:55338135-55338185	H1-hESC	embryonic stem cell:	embryo
14	chr11:55338135-55338185	ovcar-3	ovarian:	n/a
15	chr11:55338135-55338185	AG04450	lung:	fetal
16	chr11:55338135-55338185	HMEC	breast:	n/a
17	chr11:55338135-55338185	A549	lung:	n/a
18	chr11:55338135-55338185	Jurkat	blood:	n/a
19	chr11:55338135-55338185	PFSK-1	brain:	n/a
20	chr11:55338135-55338185	GM19239	blood:	n/a
21	chr11:55338135-55338185	HRE	kidney:	n/a
22	chr11:55338135-55338185	IMR90	lung:	fetal
23	chr11:55338135-55338185	Hepatocyte	liver:	n/a
24	chr11:55338135-55338185	AG09309	skin:	n/a
25	chr11:55338135-55338185	SAEC	small airway:	n/a
26	chr11:55338135-55338185	HEEpiC	esophagus:	n/a
27	chr11:55338135-55338185	HepG2	liver:	n/a
28	chr11:55338135-55338185	BE2_C	brain:	n/a
29	chr11:55338135-55338185	HCPEpiC	choroid plexus:	n/a
30	chr11:55338135-55338185	ProgFib	skin:	n/a
31	chr11:55338135-55338185	SK-N-SH	brain:	n/a
32	chr11:55338135-55338185	SKMC	muscle:	n/a
33	chr11:55338135-55338185	SK-N-MC	brain:	n/a
34	chr11:55338135-55338185	HNPCEpiC	eye:	n/a
35	chr11:55338135-55338185	SK-N-SH_RA	brain:	n/a
36	chr11:55338135-55338185	HEK293	kidney:	embryo
37	chr11:55338135-55338185	AG10803	skin:	n/a
38	chr11:55338135-55338185	PrEC	prostate:	n/a
39	chr11:55338135-55338185	Hela-S3	cervix:	n/a
40	chr11:55338135-55338185	GM12892	blood:	n/a
41	chr11:55338135-55338185	U87	brain:	n/a
42	chr11:55338135-55338185	NHBE	bronchial:	n/a
43	chr11:55338135-55338185	GM12891	blood:	n/a
44	chr11:55338135-55338185	NT2-D1	testis:	n/a
45	chr11:55338135-55338185	HCT-116	colon:	n/a
46	chr11:55338135-55338185	RPTEC	kidney:	n/a
47	chr11:55338135-55338185	HCF	heart:	n/a
48	chr11:55338135-55338185	LNCaP	prostate:	n/a
49	chr11:55338135-55338185	MCF10A-Er-Src	breast:	n/a
50	chr11:55338135-55338185	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
OR4C16	TF binding region
OR4C16	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577758992	chr11:55337802-55337803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535153477	chr11:55337807-55337808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536892132	chr11:55337809-55337810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75409911	chr11:55337841-55337842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138785960	chr11:55337844-55337845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77853930	chr11:55337862-55337863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554914272	chr11:55337868-55337869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533435656	chr11:55337870-55337871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192212867	chr11:55337873-55337874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183693240	chr11:55337916-55337917	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs567204424	chr11:55337921-55337922	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564899899	chr11:55337923-55337924	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs576846365	chr11:55337981-55337982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138705711	chr11:55337996-55337997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs484860	chr11:55338008-55338009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11230173	chr11:55338029-55338030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530317375	chr11:55338082-55338083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61916565	chr11:55338095-55338096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563636727	chr11:55338107-55338108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531138098	chr11:55338127-55338128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140500769	chr11:55338130-55338131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367905007	chr11:55338136-55338137	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs570528698	chr11:55338143-55338144	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs528552380	chr11:55338162-55338163	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs547076705	chr11:55338164-55338165	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs371821537	chr11:55338171-55338172	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs537553265	chr11:55338196-55338197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565698407	chr11:55338197-55338198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74521312	chr11:55338227-55338228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554849684	chr11:55338236-55338237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569941920	chr11:55338241-55338242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190325918	chr11:55338328-55338329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554286122	chr11:55338347-55338348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574192724	chr11:55338359-55338360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558551852	chr11:55338369-55338370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182925830	chr11:55338383-55338384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145617455	chr11:55338384-55338385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117355805	chr11:55338395-55338396	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55337800-55338200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:55338000-55338400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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