Variant report

Variant	nsv975359
Chromosome Location	chr11:48234192-48241077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

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	CTCF	chr11:48234332-48234573	K562	blood:	n/a	chr11:48234443-48234464
3	CTCF	chr11:48234435-48234479	LNCaP	prostate:	n/a	chr11:48234443-48234464
4	CTCF	chr11:48234260-48234410	MCF-7	breast:	n/a	n/a
5	CTCF	chr11:48234397-48234497	LNCaP	prostate:	n/a	chr11:48234443-48234464
6	CTCF	chr11:48236663-48236678	MCF-7	breast:	n/a	n/a
7	CTCF	chr11:48236628-48236679	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:48234402-48234440	Hela-S3	cervix:	n/a	n/a
9	E2F4	chr11:48238012-48238038	MCF10A-Er-Src	breast:	n/a	n/a
10	NFE2	chr11:48240713-48240759	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:48238947-48238990	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:48236480-48236620	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:48236499-48236611	ProgFib	skin:	n/a	n/a
14	POLR2A	chr11:48234622-48234879	ProgFib	skin:	n/a	n/a
15	RAD21	chr11:48236508-48236774	Hela-S3	cervix:	n/a	chr11:48236734-48236743
16	RAD21	chr11:48234266-48234608	Hela-S3	cervix:	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	chr11:48238724-48238774	PFSK-1	brain:	n/a
2	chr11:48238296-48238346	Caco-2	colon:	n/a
3	chr11:48238724-48238774	AoSMC	blood vessel:	n/a
4	chr11:48238724-48238774	SK-N-SH_RA	brain:	n/a
5	chr11:48238296-48238346	HAEpiC	amniotic membrane:	n/a
6	chr11:48238724-48238774	H1-hESC	embryonic stem cell:	embryo
7	chr11:48237353-48237403	PrEC	prostate:	n/a
8	chr11:48238724-48238774	HNPCEpiC	eye:	n/a
9	chr11:48237353-48237403	NT2-D1	testis:	n/a
10	chr11:48238724-48238774	SK-N-MC	brain:	n/a
11	chr11:48237353-48237403	K562	blood:	n/a
12	chr11:48238724-48238774	HRPEpiC	eye:	n/a
13	chr11:48238296-48238346	SK-N-SH_RA	brain:	n/a
14	chr11:48237353-48237403	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:48238724-48238774	HEEpiC	esophagus:	n/a
16	chr11:48237353-48237403	T-47D	breast:	n/a
17	chr11:48238724-48238774	RPTEC	kidney:	n/a
18	chr11:48237358-48237408	BJ	skin:	n/a
19	chr11:48238296-48238346	U87	brain:	n/a
20	chr11:48237358-48237408	T-47D	breast:	n/a
21	chr11:48237358-48237408	HRPEpiC	eye:	n/a
22	chr11:48237358-48237408	HCM	heart:	n/a
23	chr11:48237353-48237403	AoSMC	blood vessel:	n/a
24	chr11:48237353-48237403	SK-N-SH_RA	brain:	n/a
25	chr11:48237353-48237403	AG09309	skin:	n/a
26	chr11:48238296-48238346	HCT-116	colon:	n/a
27	chr11:48238724-48238774	IMR90	lung:	fetal
28	chr11:48238296-48238346	Hela-S3	cervix:	n/a
29	chr11:48238296-48238346	Hepatocyte	liver:	n/a
30	chr11:48237353-48237403	ProgFib	skin:	n/a
31	chr11:48238296-48238346	SK-N-MC	brain:	n/a
32	chr11:48238724-48238774	HUVEC	blood vessel:	n/a
33	chr11:48238296-48238346	AG04450	lung:	fetal
34	chr11:48238724-48238774	GM12892	blood:	n/a
35	chr11:48238296-48238346	HCF	heart:	n/a
36	chr11:48237353-48237403	LNCaP	prostate:	n/a
37	chr11:48238724-48238774	BJ	skin:	n/a
38	chr11:48237353-48237403	GM12892	blood:	n/a
39	chr11:48238296-48238346	BE2_C	brain:	n/a
40	chr11:48237353-48237403	CMK	blood:	n/a
41	chr11:48237358-48237408	CMK	blood:	n/a
42	chr11:48237353-48237403	MCF-7	breast:	n/a
43	chr11:48237353-48237403	HEEpiC	esophagus:	n/a
44	chr11:48238724-48238774	GM12891	blood:	n/a
45	chr11:48238296-48238346	Jurkat	blood:	n/a
46	chr11:48237358-48237408	Jurkat	blood:	n/a
47	chr11:48237358-48237408	AG04450	lung:	fetal
48	chr11:48238296-48238346	H1-hESC	embryonic stem cell:	embryo
49	chr11:48237358-48237408	ProgFib	skin:	n/a
50	chr11:48237353-48237403	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48205861..48206473-chr11:48233802..48234494,2	MCF-7	breast:
2	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: 47 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531040138	chr11:48234265-48234266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs550968491	chr11:48234292-48234293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs567682120	chr11:48234329-48234330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs117042022	chr11:48234330-48234331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529660349	chr11:48234331-48234332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs557910587	chr11:48234342-48234343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs11039588	chr11:48234357-48234358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150057133	chr11:48234405-48234406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs543141740	chr11:48234418-48234419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs146558866	chr11:48234444-48234445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537337215	chr11:48234446-48234447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573621048	chr11:48234491-48234492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs114707765	chr11:48234505-48234506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559947317	chr11:48234519-48234520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs576829569	chr11:48234542-48234543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs566269858	chr11:48234582-48234583	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs76913401	chr11:48234594-48234595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs545582661	chr11:48234647-48234648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12289516	chr11:48234680-48234681	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77359692	chr11:48234684-48234685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs551091366	chr11:48234701-48234702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs567546000	chr11:48234712-48234713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs374880324	chr11:48234802-48234803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs530156918	chr11:48234806-48234807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs11606200	chr11:48234813-48234814	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78672910	chr11:48234871-48234872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs550508617	chr11:48235502-48235503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs79411883	chr11:48235515-48235516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs537606418	chr11:48236510-48236511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs368238052	chr11:48236516-48236517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113341660	chr11:48236521-48236522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs73452073	chr11:48236523-48236524	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561129625	chr11:48236524-48236525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs557380944	chr11:48236552-48236553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs3923871	chr11:48236553-48236554	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536670060	chr11:48236566-48236567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs566534430	chr11:48236584-48236585	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs532260849	chr11:48236651-48236652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs552176642	chr11:48236688-48236689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs568788052	chr11:48236696-48236697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs11039590	chr11:48236725-48236726	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112121145	chr11:48237354-48237355	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs577770613	chr11:48237370-48237371	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs1875697	chr11:48238019-48238020	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs528219279	chr11:48238024-48238025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs1566737	chr11:48238302-48238303	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs534071544	chr11:48238328-48238329	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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