Variant report

Variant	nsv554219
Chromosome Location	chr11:48407663-48616694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:164)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:164 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:48600198-48600306	K562	blood:	n/a	n/a
2	CEBPB	chr11:48477506-48477722	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:48477489-48477840	A549	lung:	n/a	n/a
4	CEBPB	chr11:48477500-48477793	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:48477483-48477823	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:48477613-48477707	K562	blood:	n/a	n/a
7	CEBPB	chr11:48477590-48477827	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr11:48497081-48497188	IMR90	lung:	n/a	n/a
9	CTCF	chr11:48490607-48490680	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr11:48479011-48479096	Fibrobl	skin:	n/a	n/a
11	CTCF	chr11:48440733-48440772	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr11:48478058-48478137	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:48518266-48518294	Fibrobl	skin:	n/a	n/a
14	CTCF	chr11:48555446-48555538	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:48588680-48588719	LNCaP	prostate:	n/a	n/a
16	CTCF	chr11:48523124-48523262	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr11:48478000-48478150	HEK293	kidney:	n/a	n/a
18	CTCF	chr11:48541201-48541226	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr11:48582661-48582724	GM10248	blood:	n/a	n/a
20	CTCF	chr11:48477977-48478225	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:48559950-48559991	LNCaP	prostate:	n/a	n/a
22	CTCF	chr11:48555740-48555890	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:48491252-48491340	GM20000	blood:	n/a	n/a
24	CTCF	chr11:48477982-48478165	LNCaP	prostate:	n/a	n/a
25	CTCF	chr11:48569780-48569930	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:48478000-48478150	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr11:48555880-48556030	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:48477962-48478148	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:48521160-48521251	Fibrobl	skin:	n/a	n/a
30	CTCF	chr11:48592671-48592738	GM13976	blood:	n/a	n/a
31	CTCF	chr11:48478011-48478111	HepG2	liver:	n/a	n/a
32	CTCF	chr11:48478020-48478170	A549	lung:	n/a	n/a
33	CTCF	chr11:48555681-48555969	MCF-7	breast:	n/a	n/a
34	CTCF	chr11:48429107-48429194	LNCaP	prostate:	n/a	n/a
35	CTCF	chr11:48477858-48478220	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:48477999-48478181	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:48527334-48527432	Lung_OC	lung:	n/a	n/a
38	CTCF	chr11:48555785-48555888	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:48492470-48492503	GM20000	blood:	n/a	n/a
40	CTCF	chr11:48518807-48518840	Lung_OC	lung:	n/a	n/a
41	CTCF	chr11:48478020-48478170	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:48430474-48430511	GM13977	blood:	n/a	n/a
43	CTCF	chr11:48541822-48541922	GM20000	blood:	n/a	n/a
44	CTCF	chr11:48483941-48484024	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr11:48478059-48478158	HepG2	liver:	n/a	n/a
46	CTCF	chr11:48478040-48478190	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:48473825-48473897	GM10248	blood:	n/a	n/a
48	CTCF	chr11:48478048-48478119	MCF-7	breast:	n/a	n/a
49	CTCF	chr11:48455736-48455815	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr11:48445392-48445457	Kidney_OC	kidney:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48509778-48509828	AG09309	skin:	n/a
2	chr11:48509778-48509828	AG09309	skin:	n/a
3	chr11:48509488-48509538	HepG2	liver:	n/a
4	chr11:48509778-48509828	BJ	skin:	n/a
5	chr11:48510647-48510697	HNPCEpiC	eye:	n/a
6	chr11:48510647-48510697	GM12878	blood:	n/a
7	chr11:48509778-48509828	HMEC	breast:	n/a
8	chr11:48509778-48509828	RPTEC	kidney:	n/a
9	chr11:48509488-48509538	U87	brain:	n/a
10	chr11:48509488-48509538	HL-60	blood:	n/a
11	chr11:48509778-48509828	H1-hESC	embryonic stem cell:	embryo
12	chr11:48509778-48509828	GM06990	blood:	n/a
13	chr11:48510647-48510697	AG10803	skin:	n/a
14	chr11:48509488-48509538	AG09319	gingival:	n/a
15	chr11:48509778-48509828	GM12878	blood:	n/a
16	chr11:48510647-48510697	LNCaP	prostate:	n/a
17	chr11:48510647-48510697	PANC-1	pancreas:	n/a
18	chr11:48510647-48510697	Hela-S3	cervix:	n/a
19	chr11:48509778-48509828	HCPEpiC	choroid plexus:	n/a
20	chr11:48509488-48509538	CMK	blood:	n/a
21	chr11:48509488-48509538	NHBE	bronchial:	n/a
22	chr11:48509488-48509538	MCF-7	breast:	n/a
23	chr11:48509778-48509828	AG10803	skin:	n/a
24	chr11:48509778-48509828	HAEpiC	amniotic membrane:	n/a
25	chr11:48510647-48510697	CMK	blood:	n/a
26	chr11:48510647-48510697	IMR90	lung:	fetal
27	chr11:48509778-48509828	Jurkat	blood:	n/a
28	chr11:48509488-48509538	HRCEpiC	kidney:	n/a
29	chr11:48510647-48510697	PrEC	prostate:	n/a
30	chr11:48510647-48510697	ProgFib	skin:	n/a
31	chr11:48510647-48510697	NB4	blood:	n/a
32	chr11:48510647-48510697	GM19239	blood:	n/a
33	chr11:48509778-48509828	PANC-1	pancreas:	n/a
34	chr11:48510647-48510697	HCT-116	colon:	n/a
35	chr11:48509778-48509828	MCF10A-Er-Src	breast:	n/a
36	chr11:48510647-48510697	NT2-D1	testis:	n/a
37	chr11:48509488-48509538	RPTEC	kidney:	n/a
38	chr11:48510647-48510697	SK-N-MC	brain:	n/a
39	chr11:48509778-48509828	AoSMC	blood vessel:	n/a
40	chr11:48510647-48510697	HCPEpiC	choroid plexus:	n/a
41	chr11:48510647-48510697	HRCEpiC	kidney:	n/a
42	chr11:48510647-48510697	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:48509488-48509538	AG04450	lung:	fetal
44	chr11:48510647-48510697	AG04450	lung:	fetal
45	chr11:48509778-48509828	BE2_C	brain:	n/a
46	chr11:48509778-48509828	NT2-D1	testis:	n/a
47	chr11:48509488-48509538	ProgFib	skin:	n/a
48	chr11:48510647-48510697	RPTEC	kidney:	n/a
49	chr11:48509488-48509538	HIPEpiC	eye:	n/a
50	chr11:48510647-48510697	HIPEpiC	eye:	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
OR4C10P	TF binding region
OR4A47	TF binding region
OR4C2P	TF binding region
OR4A41P	TF binding region
OR4A46P	TF binding region
OR4A45P	TF binding region
OR4R1P	TF binding region
OR4A43P	TF binding region
OR4A40P	TF binding region
OR4A48P	TF binding region
OR4C9P	CpG island
OR4C10P	CpG island
OR4A47	CpG island
OR4C2P	CpG island
OR4A41P	CpG island
OR4A46P	CpG island
OR4A45P	CpG island
OR4R1P	CpG island
OR4A43P	CpG island
OR4A40P	CpG island
OR4A48P	CpG island

Extended variants
information (count: 318 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:318 , 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	rs549657160	chr11:48413013-48413014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542298239	chr11:48413026-48413027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563180623	chr11:48413035-48413036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4303259	chr11:48413044-48413045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548877792	chr11:48413057-48413058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375314574	chr11:48413067-48413068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149348711	chr11:48413077-48413078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143676509	chr11:48413092-48413093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571258302	chr11:48413099-48413100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192050994	chr11:48413108-48413109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181954544	chr11:48413138-48413139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557671210	chr11:48413161-48413162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2200181	chr11:48413175-48413176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566740322	chr11:48413213-48413214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148053973	chr11:48413228-48413229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114772377	chr11:48413229-48413230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573295302	chr11:48413230-48413231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537691125	chr11:48413244-48413245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187417651	chr11:48413253-48413254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141797989	chr11:48413254-48413255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147183259	chr11:48413283-48413284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371391611	chr11:48413295-48413296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138835923	chr11:48413305-48413306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529141180	chr11:48413339-48413340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs643668	chr11:48413399-48413400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184018331	chr11:48436948-48436949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs613838	chr11:48439807-48439808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs186915414	chr11:48439902-48439903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs532019408	chr11:48440763-48440764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs151129707	chr11:48455643-48455644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs544470165	chr11:48455665-48455666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs551877577	chr11:48455685-48455686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs571635475	chr11:48455687-48455688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs4882064	chr11:48455757-48455758	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs535790161	chr11:48455772-48455773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs555697726	chr11:48455790-48455791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs530092064	chr11:48455791-48455792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs574328381	chr11:48487751-48487752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs371144119	chr11:48487757-48487758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs554006216	chr11:48487763-48487764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs539904605	chr11:48487773-48487774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs559835083	chr11:48487780-48487781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs36105506	chr11:48488845-48488846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs141858706	chr11:48488896-48488897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs185455714	chr11:48488901-48488902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs368635166	chr11:48488973-48488974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs556297304	chr11:48488995-48488996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs570240203	chr11:48488998-48488999	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs200545698	chr11:48489014-48489015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs190377088	chr11:48489023-48489024	Inactive region	TF binding region	1 gene(s)	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48413000-48413400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:48515600-48516600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr11:48569000-48569600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr11:48569200-48569600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:48576800-48577000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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