Variant report

Variant	nsv975840
Chromosome Location	chr11:48231349-48242528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:244)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:157 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr11:48235490-48235559	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:48232346-48232660	IMR90	lung:	n/a	chr11:48232504-48232515
3	CEBPB	chr11:48232376-48232660	HepG2	liver:	n/a	chr11:48232504-48232515
4	CEBPB	chr11:48232351-48232666	K562	blood:	n/a	chr11:48232504-48232515
5	CEBPB	chr11:48232368-48232629	A549	lung:	n/a	chr11:48232504-48232515
6	CEBPB	chr11:48232372-48232647	Hela-S3	cervix:	n/a	chr11:48232504-48232515
7	CTCF	chr11:48231660-48231810	GM12864	blood:	n/a	n/a
8	CTCF	chr11:48231740-48231890	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr11:48231700-48231850	GM12873	blood:	n/a	n/a
10	CTCF	chr11:48231660-48231810	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:48231720-48231870	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr11:48231700-48231850	GM06990	blood:	n/a	n/a
13	CTCF	chr11:48231720-48231870	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr11:48231640-48231790	NHLF	lung:	n/a	n/a
15	CTCF	chr11:48234397-48234497	LNCaP	prostate:	n/a	chr11:48234443-48234464
16	CTCF	chr11:48231680-48231830	GM12868	blood:	n/a	n/a
17	CTCF	chr11:48231718-48231859	GM12891	blood:	n/a	n/a
18	CTCF	chr11:48231740-48231890	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr11:48231700-48231990	GM12872	blood:	n/a	n/a
20	CTCF	chr11:48231635-48231854	K562	blood:	n/a	n/a
21	CTCF	chr11:48231704-48231895	K562	blood:	n/a	n/a
22	CTCF	chr11:48231740-48231890	AG09319	gingival:	n/a	n/a
23	CTCF	chr11:48231640-48231790	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr11:48231778-48231832	GM12892	blood:	n/a	n/a
25	CTCF	chr11:48231700-48231850	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr11:48231680-48231830	AG04450	lung:	n/a	n/a
27	CTCF	chr11:48231640-48231790	HAc	cerebellar:	n/a	n/a
28	CTCF	chr11:48231660-48231810	BE2_C	brain:	n/a	n/a
29	CTCF	chr11:48231700-48231850	AG04450	lung:	n/a	n/a
30	CTCF	chr11:48231688-48231910	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:48231769-48231821	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr11:48231625-48231984	K562	blood:	n/a	n/a
33	CTCF	chr11:48231662-48231909	HepG2	liver:	n/a	n/a
34	CTCF	chr11:48231720-48231870	HMF	breast:	n/a	n/a
35	CTCF	chr11:48231720-48231870	WI-38	lung:	n/a	n/a
36	CTCF	chr11:48231680-48231830	HEK293	kidney:	n/a	n/a
37	CTCF	chr11:48231680-48231830	WI-38	lung:	n/a	n/a
38	CTCF	chr11:48231760-48231910	GM06990	blood:	n/a	n/a
39	CTCF	chr11:48231660-48231810	AG09309	skin:	n/a	n/a
40	CTCF	chr11:48231660-48231881	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr11:48231689-48231902	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:48234435-48234479	LNCaP	prostate:	n/a	chr11:48234443-48234464
43	CTCF	chr11:48231640-48231790	GM12869	blood:	n/a	n/a
44	CTCF	chr11:48231680-48231830	AG09309	skin:	n/a	n/a
45	CTCF	chr11:48231715-48231878	A549	lung:	n/a	n/a
46	CTCF	chr11:48231699-48231886	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr11:48231707-48231908	ProgFib	skin:	n/a	n/a
48	CTCF	chr11:48231700-48231850	GM12874	blood:	n/a	n/a
49	CTCF	chr11:48231780-48231930	GM12870	blood:	n/a	n/a
50	CTCF	chr11:48231700-48231850	GM12866	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48238296-48238346	MCF10A-Er-Src	breast:	n/a
2	chr11:48238296-48238346	AG09319	gingival:	n/a
3	chr11:48238724-48238774	GM19239	blood:	n/a
4	chr11:48237358-48237408	AG04449	skin:	fetal
5	chr11:48238724-48238774	RPTEC	kidney:	n/a
6	chr11:48237353-48237403	IMR90	lung:	fetal
7	chr11:48237353-48237403	NHDF-neo	bronchial:	n/a
8	chr11:48238296-48238346	SK-N-MC	brain:	n/a
9	chr11:48237353-48237403	PANC-1	pancreas:	n/a
10	chr11:48238296-48238346	GM19239	blood:	n/a
11	chr11:48238296-48238346	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:48238296-48238346	HUVEC	blood vessel:	n/a
13	chr11:48238296-48238346	ProgFib	skin:	n/a
14	chr11:48238724-48238774	PANC-1	pancreas:	n/a
15	chr11:48237358-48237408	AG09309	skin:	n/a
16	chr11:48238296-48238346	NB4	blood:	n/a
17	chr11:48237358-48237408	HL-60	blood:	n/a
18	chr11:48237353-48237403	T-47D	breast:	n/a
19	chr11:48237358-48237408	Jurkat	blood:	n/a
20	chr11:48238724-48238774	HRE	kidney:	n/a
21	chr11:48238724-48238774	U87	brain:	n/a
22	chr11:48237358-48237408	NH-A	brain:	n/a
23	chr11:48237353-48237403	BE2_C	brain:	n/a
24	chr11:48238724-48238774	HCPEpiC	choroid plexus:	n/a
25	chr11:48238724-48238774	HCT-116	colon:	n/a
26	chr11:48237358-48237408	Hela-S3	cervix:	n/a
27	chr11:48238296-48238346	ovcar-3	ovarian:	n/a
28	chr11:48237353-48237403	HL-60	blood:	n/a
29	chr11:48238724-48238774	NHBE	bronchial:	n/a
30	chr11:48238296-48238346	Hela-S3	cervix:	n/a
31	chr11:48237358-48237408	HepG2	liver:	n/a
32	chr11:48238296-48238346	HRE	kidney:	n/a
33	chr11:48238296-48238346	U87	brain:	n/a
34	chr11:48238724-48238774	AG10803	skin:	n/a
35	chr11:48237358-48237408	AG10803	skin:	n/a
36	chr11:48237358-48237408	NHBE	bronchial:	n/a
37	chr11:48238724-48238774	Caco-2	colon:	n/a
38	chr11:48237353-48237403	NB4	blood:	n/a
39	chr11:48237358-48237408	PFSK-1	brain:	n/a
40	chr11:48238296-48238346	A549	lung:	n/a
41	chr11:48238296-48238346	HAEpiC	amniotic membrane:	n/a
42	chr11:48238296-48238346	NT2-D1	testis:	n/a
43	chr11:48237358-48237408	HEK293	kidney:	embryo
44	chr11:48237358-48237408	PrEC	prostate:	n/a
45	chr11:48237358-48237408	SK-N-MC	brain:	n/a
46	chr11:48238724-48238774	AG09309	skin:	n/a
47	chr11:48237358-48237408	GM12891	blood:	n/a
48	chr11:48238724-48238774	HEK293	kidney:	embryo
49	chr11:48238724-48238774	CMK	blood:	n/a
50	chr11:48237358-48237408	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:48194137..48195015-chr11:48231499..48232341,4	MCF-7	breast:
2	chr11:48205381..48206618-chr11:48231139..48232409,4	MCF-7	breast:
3	chr11:48193798..48195313-chr11:48231364..48232253,10	MCF-7	breast:
4	chr11:48205861..48206473-chr11:48233802..48234494,2	MCF-7	breast:
5	chr11:48234220..48234962-chr11:48329425..48329937,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR4B1	TF binding region
OR4B1	CpG island

Extended variants
information (count: 66 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145870671	chr11:48231609-48231610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534248025	chr11:48231630-48231631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113186361	chr11:48231653-48231654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1503187	chr11:48231663-48231664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577060304	chr11:48231666-48231667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545885569	chr11:48231722-48231723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562692105	chr11:48231735-48231736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201636414	chr11:48231752-48231753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576128828	chr11:48231794-48231795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541777677	chr11:48231804-48231805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76349083	chr11:48231860-48231861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553988871	chr11:48231886-48231887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377358340	chr11:48231889-48231890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148998190	chr11:48231906-48231907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7122429	chr11:48231911-48231912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560277889	chr11:48231913-48231914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532389152	chr11:48231918-48231919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552298826	chr11:48231924-48231925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185966573	chr11:48231943-48231944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531040138	chr11:48234265-48234266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs550968491	chr11:48234292-48234293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs567682120	chr11:48234329-48234330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs117042022	chr11:48234330-48234331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs529660349	chr11:48234331-48234332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs557910587	chr11:48234342-48234343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs11039588	chr11:48234357-48234358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs150057133	chr11:48234405-48234406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs543141740	chr11:48234418-48234419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs146558866	chr11:48234444-48234445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs537337215	chr11:48234446-48234447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs573621048	chr11:48234491-48234492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs114707765	chr11:48234505-48234506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs559947317	chr11:48234519-48234520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs576829569	chr11:48234542-48234543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs566269858	chr11:48234582-48234583	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs76913401	chr11:48234594-48234595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs545582661	chr11:48234647-48234648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs12289516	chr11:48234680-48234681	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs77359692	chr11:48234684-48234685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs551091366	chr11:48234701-48234702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs567546000	chr11:48234712-48234713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs374880324	chr11:48234802-48234803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs530156918	chr11:48234806-48234807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs11606200	chr11:48234813-48234814	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78672910	chr11:48234871-48234872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550508617	chr11:48235502-48235503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs79411883	chr11:48235515-48235516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs537606418	chr11:48236510-48236511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs368238052	chr11:48236516-48236517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113341660	chr11:48236521-48236522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Lung cancer	18438408	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
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
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48231600-48232000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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