Variant report

Variant	nsv975841
Chromosome Location	chr11:48466443-48558069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:48477500-48477793	IMR90	lung:	n/a	n/a
2	CEBPB	chr11:48477613-48477707	K562	blood:	n/a	n/a
3	CEBPB	chr11:48477590-48477827	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr11:48497081-48497188	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:48477489-48477840	A549	lung:	n/a	n/a
6	CEBPB	chr11:48477483-48477823	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:48477506-48477722	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:48518807-48518840	Lung_OC	lung:	n/a	n/a
9	CTCF	chr11:48478059-48478158	HepG2	liver:	n/a	n/a
10	CTCF	chr11:48477858-48478220	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:48478000-48478150	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr11:48477977-48478225	LNCaP	prostate:	n/a	n/a
13	CTCF	chr11:48480118-48480215	LNCaP	prostate:	n/a	n/a
14	CTCF	chr11:48479011-48479096	Fibrobl	skin:	n/a	n/a
15	CTCF	chr11:48478020-48478170	A549	lung:	n/a	n/a
16	CTCF	chr11:48473825-48473897	GM10248	blood:	n/a	n/a
17	CTCF	chr11:48555456-48555509	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:48517944-48518015	Lung_OC	lung:	n/a	n/a
19	CTCF	chr11:48478048-48478119	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:48490607-48490680	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr11:48477999-48478181	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:48555446-48555538	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:48478020-48478170	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:48477982-48478165	LNCaP	prostate:	n/a	n/a
25	CTCF	chr11:48541822-48541922	GM20000	blood:	n/a	n/a
26	CTCF	chr11:48555880-48556030	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:48478040-48478190	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:48478011-48478111	HepG2	liver:	n/a	n/a
29	CTCF	chr11:48527334-48527432	Lung_OC	lung:	n/a	n/a
30	CTCF	chr11:48483941-48484024	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr11:48478058-48478137	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:48541201-48541226	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr11:48491252-48491340	GM20000	blood:	n/a	n/a
34	CTCF	chr11:48518266-48518294	Fibrobl	skin:	n/a	n/a
35	CTCF	chr11:48521160-48521251	Fibrobl	skin:	n/a	n/a
36	CTCF	chr11:48531743-48531775	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:48478000-48478150	HEK293	kidney:	n/a	n/a
38	CTCF	chr11:48555740-48555890	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:48555681-48555969	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:48477962-48478148	MCF-7	breast:	n/a	n/a
41	CTCF	chr11:48492470-48492503	GM20000	blood:	n/a	n/a
42	CTCF	chr11:48555785-48555888	MCF-7	breast:	n/a	n/a
43	CTCF	chr11:48523124-48523262	Pancreas_OC	pancreas:	n/a	n/a
44	FOS	chr11:48486116-48486349	MCF10A-Er-Src	breast:	n/a	chr11:48486239-48486246 chr11:48486238-48486246
45	FOS	chr11:48488835-48489093	MCF10A-Er-Src	breast:	n/a	chr11:48488997-48489007 chr11:48488997-48489007 chr11:48488998-48489007 chr11:48488997-48489007 chr11:48488997-48489007
46	FOS	chr11:48488895-48489113	MCF10A-Er-Src	breast:	n/a	chr11:48488997-48489007 chr11:48488997-48489007 chr11:48488998-48489007 chr11:48488997-48489007 chr11:48488997-48489007
47	FOS	chr11:48546291-48546631	MCF10A-Er-Src	breast:	n/a	chr11:48546576-48546584 chr11:48546614-48546626 chr11:48546576-48546583
48	FOS	chr11:48486106-48486321	MCF10A-Er-Src	breast:	n/a	chr11:48486239-48486246 chr11:48486238-48486246
49	FOS	chr11:48488871-48489122	MCF10A-Er-Src	breast:	n/a	chr11:48488997-48489007 chr11:48488997-48489007 chr11:48488998-48489007 chr11:48488997-48489007 chr11:48488997-48489007
50	FOS	chr11:48488829-48489132	MCF10A-Er-Src	breast:	n/a	chr11:48488997-48489007 chr11:48488997-48489007 chr11:48488998-48489007 chr11:48488997-48489007 chr11:48488997-48489007

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48509488-48509538	HCM	heart:	n/a
2	chr11:48509778-48509828	U87	brain:	n/a
3	chr11:48510647-48510697	NHDF-neo	bronchial:	n/a
4	chr11:48509778-48509828	CMK	blood:	n/a
5	chr11:48510647-48510697	PANC-1	pancreas:	n/a
6	chr11:48509488-48509538	NHBE	bronchial:	n/a
7	chr11:48509778-48509828	ProgFib	skin:	n/a
8	chr11:48510647-48510697	AG09319	gingival:	n/a
9	chr11:48509778-48509828	SKMC	muscle:	n/a
10	chr11:48509778-48509828	HCT-116	colon:	n/a
11	chr11:48509778-48509828	SK-N-SH_RA	brain:	n/a
12	chr11:48509778-48509828	SK-N-MC	brain:	n/a
13	chr11:48510647-48510697	SKMC	muscle:	n/a
14	chr11:48509488-48509538	HRE	kidney:	n/a
15	chr11:48510647-48510697	BE2_C	brain:	n/a
16	chr11:48509778-48509828	HepG2	liver:	n/a
17	chr11:48509488-48509538	PrEC	prostate:	n/a
18	chr11:48509778-48509828	NT2-D1	testis:	n/a
19	chr11:48509778-48509828	HPAEpiC	pulmonary alveolar:	n/a
20	chr11:48509488-48509538	NHDF-neo	bronchial:	n/a
21	chr11:48509488-48509538	SK-N-MC	brain:	n/a
22	chr11:48509488-48509538	GM12878	blood:	n/a
23	chr11:48509488-48509538	HCF	heart:	n/a
24	chr11:48509778-48509828	NH-A	brain:	n/a
25	chr11:48509488-48509538	NB4	blood:	n/a
26	chr11:48510647-48510697	NH-A	brain:	n/a
27	chr11:48510647-48510697	GM12892	blood:	n/a
28	chr11:48509488-48509538	LNCaP	prostate:	n/a
29	chr11:48509488-48509538	HAEpiC	amniotic membrane:	n/a
30	chr11:48510647-48510697	HL-60	blood:	n/a
31	chr11:48509778-48509828	HL-60	blood:	n/a
32	chr11:48509778-48509828	HRPEpiC	eye:	n/a
33	chr11:48510647-48510697	BJ	skin:	n/a
34	chr11:48509488-48509538	GM12892	blood:	n/a
35	chr11:48509778-48509828	HAEpiC	amniotic membrane:	n/a
36	chr11:48509778-48509828	AG09319	gingival:	n/a
37	chr11:48509778-48509828	HCPEpiC	choroid plexus:	n/a
38	chr11:48509488-48509538	GM19239	blood:	n/a
39	chr11:48509488-48509538	SAEC	small airway:	n/a
40	chr11:48509488-48509538	H1-hESC	embryonic stem cell:	embryo
41	chr11:48509488-48509538	HIPEpiC	eye:	n/a
42	chr11:48509778-48509828	HMEC	breast:	n/a
43	chr11:48509488-48509538	Caco-2	colon:	n/a
44	chr11:48509778-48509828	SAEC	small airway:	n/a
45	chr11:48509778-48509828	HRE	kidney:	n/a
46	chr11:48509778-48509828	HRCEpiC	kidney:	n/a
47	chr11:48509778-48509828	AG04449	skin:	fetal
48	chr11:48510647-48510697	K562	blood:	n/a
49	chr11:48510647-48510697	AoSMC	blood vessel:	n/a
50	chr11:48510647-48510697	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48478071..48478587-chr11:49191267..49191777,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C5-1	chr11:48507915-48508377	NONHSAT021297

No data

Variant related genes	Relation type
OR4C9P	TF binding region
OR4A47	TF binding region
OR4A40P	TF binding region
OR4A46P	TF binding region
OR4A48P	TF binding region
OR4R1P	TF binding region
OR4A43P	TF binding region
OR4C9P	CpG island
OR4A47	CpG island
OR4A40P	CpG island
OR4A46P	CpG island
OR4A48P	CpG island
OR4R1P	CpG island
OR4A43P	CpG island

Extended variants
information (count: 172 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574328381	chr11:48487751-48487752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371144119	chr11:48487757-48487758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs554006216	chr11:48487763-48487764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539904605	chr11:48487773-48487774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559835083	chr11:48487780-48487781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs36105506	chr11:48488845-48488846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs141858706	chr11:48488896-48488897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs185455714	chr11:48488901-48488902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs368635166	chr11:48488973-48488974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs556297304	chr11:48488995-48488996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs570240203	chr11:48488998-48488999	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs200545698	chr11:48489014-48489015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs190377088	chr11:48489023-48489024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs193258689	chr11:48489033-48489034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs576388622	chr11:48489036-48489037	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs113784301	chr11:48489069-48489070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs138114797	chr11:48489084-48489085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs183646568	chr11:48489118-48489119	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs537488376	chr11:48490069-48490070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557049678	chr11:48490093-48490094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs182311875	chr11:48490098-48490099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs73464765	chr11:48490110-48490111	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535351174	chr11:48490114-48490115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs545626641	chr11:48490150-48490151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555198569	chr11:48490160-48490161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs186973215	chr11:48490193-48490194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs540799397	chr11:48490222-48490223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs183243013	chr11:48491258-48491259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs4882076	chr11:48491270-48491271	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530050704	chr11:48491271-48491272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs371119854	chr11:48491281-48491282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs146284381	chr11:48491320-48491321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs565663890	chr11:48491323-48491324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs573165138	chr11:48507969-48507970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs538884728	chr11:48507981-48507982	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs532028336	chr11:48507982-48507983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs182597874	chr11:48507995-48507996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs187106158	chr11:48508046-48508047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs150949989	chr11:48508073-48508074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs543988692	chr11:48508088-48508089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs192022201	chr11:48508116-48508117	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs368896113	chr11:48508122-48508123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs542289416	chr11:48508143-48508144	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs546450913	chr11:48508166-48508167	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs539841979	chr11:48508217-48508218	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs560455772	chr11:48508240-48508241	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs532677683	chr11:48508250-48508251	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs185446737	chr11:48508251-48508252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs562954422	chr11:48508264-48508265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs531916637	chr11:48508271-48508272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48515600-48516600	Enhancers	Pancreatic Islets	Pancreatic Islet

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