Variant report

Variant	esv3418703
Chromosome Location	chr11:48326676-48328724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
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	CTCF	chr11:48326840-48326990	SAEC	small airway:	n/a	n/a
2	CTCF	chr11:48326940-48327090	GM12864	blood:	n/a	n/a
3	CTCF	chr11:48328340-48328490	AG10803	skin:	n/a	n/a
4	CTCF	chr11:48327760-48327910	GM12864	blood:	n/a	n/a
5	GTF2F1	chr11:48327811-48327839	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr11:48327872-48328055	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:48328470-48328588	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48328132-48328182	GM06990	blood:	n/a
2	chr11:48328132-48328182	GM06990	blood:	n/a
3	chr11:48328132-48328182	NHBE	bronchial:	n/a
4	chr11:48328132-48328182	AG04450	lung:	fetal
5	chr11:48328132-48328182	RPTEC	kidney:	n/a
6	chr11:48328132-48328182	GM12891	blood:	n/a
7	chr11:48327164-48327214	HRPEpiC	eye:	n/a
8	chr11:48327164-48327214	GM19239	blood:	n/a
9	chr11:48327164-48327214	GM12891	blood:	n/a
10	chr11:48328132-48328182	HNPCEpiC	eye:	n/a
11	chr11:48328132-48328182	H1-hESC	embryonic stem cell:	embryo
12	chr11:48327164-48327214	H1-hESC	embryonic stem cell:	embryo
13	chr11:48328132-48328182	PANC-1	pancreas:	n/a
14	chr11:48328132-48328182	HCPEpiC	choroid plexus:	n/a
15	chr11:48327164-48327214	SK-N-SH_RA	brain:	n/a
16	chr11:48328132-48328182	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:48327164-48327214	Hela-S3	cervix:	n/a
18	chr11:48327164-48327214	RPTEC	kidney:	n/a
19	chr11:48327164-48327214	HepG2	liver:	n/a
20	chr11:48328132-48328182	AoSMC	blood vessel:	n/a
21	chr11:48327164-48327214	BE2_C	brain:	n/a
22	chr11:48327164-48327214	ovcar-3	ovarian:	n/a
23	chr11:48328132-48328182	HCF	heart:	n/a
24	chr11:48328132-48328182	ECC-1	luminal epithelium:	n/a
25	chr11:48328132-48328182	Hepatocyte	liver:	n/a
26	chr11:48328132-48328182	SAEC	small airway:	n/a
27	chr11:48328132-48328182	CMK	blood:	n/a
28	chr11:48328132-48328182	A549	lung:	n/a
29	chr11:48327164-48327214	AG10803	skin:	n/a
30	chr11:48327164-48327214	SKMC	muscle:	n/a
31	chr11:48327164-48327214	SAEC	small airway:	n/a
32	chr11:48327164-48327214	GM12878	blood:	n/a
33	chr11:48327164-48327214	HCT-116	colon:	n/a
34	chr11:48328132-48328182	HIPEpiC	eye:	n/a
35	chr11:48328132-48328182	U87	brain:	n/a
36	chr11:48327164-48327214	HEEpiC	esophagus:	n/a
37	chr11:48328132-48328182	NHDF-neo	bronchial:	n/a
38	chr11:48328132-48328182	ProgFib	skin:	n/a
39	chr11:48327164-48327214	Caco-2	colon:	n/a
40	chr11:48328132-48328182	HRCEpiC	kidney:	n/a
41	chr11:48327164-48327214	Hepatocyte	liver:	n/a
42	chr11:48327164-48327214	HNPCEpiC	eye:	n/a
43	chr11:48327164-48327214	AG09319	gingival:	n/a
44	chr11:48327164-48327214	AoSMC	blood vessel:	n/a
45	chr11:48328132-48328182	IMR90	lung:	fetal
46	chr11:48328132-48328182	HL-60	blood:	n/a
47	chr11:48327164-48327214	U87	brain:	n/a
48	chr11:48327164-48327214	NH-A	brain:	n/a
49	chr11:48327164-48327214	ECC-1	luminal epithelium:	n/a
50	chr11:48328132-48328182	BJ	skin:	n/a

No data

Variant related genes	Relation type
OR4S1	TF binding region
OR4S1	CpG island

Extended variants
information (count: 59 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528670448	chr11:48326848-48326849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs546757604	chr11:48326873-48326874	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs529428519	chr11:48326875-48326876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs146880199	chr11:48326888-48326889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs570414118	chr11:48326904-48326905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs183834662	chr11:48326959-48326960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs7130032	chr11:48326963-48326964	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570195676	chr11:48327029-48327030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs189100425	chr11:48327043-48327044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs75301774	chr11:48327057-48327058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs555901913	chr11:48327164-48327165	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs566150547	chr11:48327165-48327166	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs1483122	chr11:48327186-48327187	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140748221	chr11:48327213-48327214	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs189030604	chr11:48327772-48327773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs371797596	chr11:48328011-48328012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376510610	chr11:48328016-48328017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78420375	chr11:48328027-48328028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138486462	chr11:48328029-48328030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143021148	chr11:48328042-48328043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146061383	chr11:48328046-48328047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113521367	chr11:48328056-48328057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200270292	chr11:48328095-48328096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117933983	chr11:48328098-48328099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199768827	chr11:48328102-48328103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149348743	chr11:48328118-48328119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35930119	chr11:48328121-48328122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148528587	chr11:48328123-48328124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373866132	chr11:48328131-48328132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142628840	chr11:48328132-48328133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562063324	chr11:48328133-48328134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201970819	chr11:48328139-48328140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375158857	chr11:48328154-48328155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369815134	chr11:48328159-48328160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373016390	chr11:48328166-48328167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571664984	chr11:48328173-48328174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202137071	chr11:48328174-48328175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185370970	chr11:48328183-48328184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61749289	chr11:48328184-48328185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377574212	chr11:48328188-48328189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61749290	chr11:48328193-48328194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373005402	chr11:48328203-48328204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535408672	chr11:48328216-48328217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555235284	chr11:48328248-48328249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371001252	chr11:48328256-48328257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140613018	chr11:48328257-48328258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144564580	chr11:48328258-48328259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190716643	chr11:48328261-48328262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180728690	chr11:48328267-48328268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147847664	chr11:48328274-48328275	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	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
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48328000-48328400	Enhancers	Lung	lung

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