Variant report

Variant	nsv983179
Chromosome Location	chr11:32745147-32782088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:32773060-32773210	A549	lung:	n/a	n/a
2	CTCF	chr11:32771200-32771350	GM12864	blood:	n/a	n/a
3	CTCF	chr11:32771140-32771290	AoAF	blood vessel:	n/a	n/a
4	CTCF	chr11:32771200-32771350	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr11:32771220-32771370	NHEK	skin:	n/a	n/a
6	CTCF	chr11:32773103-32773139	K562	blood:	n/a	n/a
7	CTCF	chr11:32771220-32771370	HEK293	kidney:	n/a	n/a
8	CTCF	chr11:32771140-32771290	NHEK	skin:	n/a	n/a
9	CTCF	chr11:32771200-32771350	GM12870	blood:	n/a	n/a
10	CTCF	chr11:32771188-32771389	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr11:32771160-32771310	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr11:32771180-32771330	GM12873	blood:	n/a	n/a
13	CTCF	chr11:32773010-32773238	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:32771200-32771350	WI-38	lung:	n/a	n/a
15	CTCF	chr11:32771166-32771399	HepG2	liver:	n/a	n/a
16	CTCF	chr11:32771220-32771370	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr11:32771220-32771370	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chr11:32771180-32771330	BJ	skin:	n/a	n/a
19	CTCF	chr11:32771160-32771310	HCT-116	colon:	n/a	n/a
20	CTCF	chr11:32771180-32771330	GM12872	blood:	n/a	n/a
21	CTCF	chr11:32771230-32771340	GM13976	blood:	n/a	n/a
22	CTCF	chr11:32771160-32771310	GM12868	blood:	n/a	n/a
23	CTCF	chr11:32771180-32771330	HPF	lung:	n/a	n/a
24	CTCF	chr11:32771260-32771410	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr11:32766925-32766976	LNCaP	prostate:	n/a	n/a
26	CTCF	chr11:32771154-32771412	GM12878	blood:	n/a	n/a
27	CTCF	chr11:32772780-32772930	HCT-116	colon:	n/a	n/a
28	CTCF	chr11:32773114-32773140	GM19239	blood:	n/a	n/a
29	CTCF	chr11:32771145-32771406	GM19238	blood:	n/a	n/a
30	CTCF	chr11:32749140-32749249	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:32773080-32773230	HepG2	liver:	n/a	n/a
32	CTCF	chr11:32773020-32773170	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr11:32771165-32771495	K562	blood:	n/a	n/a
34	CTCF	chr11:32771140-32771290	HVMF	connective:	n/a	n/a
35	CTCF	chr11:32771204-32771325	GM12891	blood:	n/a	n/a
36	CTCF	chr11:32771220-32771370	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr11:32771220-32771370	HRE	kidney:	n/a	n/a
38	CTCF	chr11:32772780-32772930	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr11:32771260-32771410	AG10803	skin:	n/a	n/a
40	CTCF	chr11:32771260-32771410	GM12869	blood:	n/a	n/a
41	CTCF	chr11:32773077-32773167	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:32771220-32771370	GM12866	blood:	n/a	n/a
43	CTCF	chr11:32773000-32773150	GM12873	blood:	n/a	n/a
44	CTCF	chr11:32773031-32773175	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:32771220-32771370	GM12872	blood:	n/a	n/a
46	CTCF	chr11:32771180-32771330	GM12867	blood:	n/a	n/a
47	CTCF	chr11:32773096-32773162	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:32771180-32771330	GM12801	blood:	n/a	n/a
49	CTCF	chr11:32771174-32771384	K562	blood:	n/a	n/a
50	CTCF	chr11:32771064-32771401	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32741454..32744033-chr11:32750070..32751774,2	K562	blood:
2	chr11:32770910..32771799-chr11:32813954..32815012,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRRG4-4	chr11:32779814-32780160	NONHSAT018673

No data

Variant related genes	Relation type
ENSG00000244535	TF binding region

Extended variants
information (count: 368 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12224741	chr11:32745251-32745252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191744422	chr11:32745262-32745263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531843573	chr11:32745267-32745268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532878424	chr11:32745287-32745288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146303107	chr11:32745378-32745379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11031950	chr11:32745532-32745533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181353349	chr11:32768233-32768234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573404952	chr11:32768273-32768274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs535385718	chr11:32768289-32768290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs186425622	chr11:32768300-32768301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548649454	chr11:32768325-32768326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567145552	chr11:32768411-32768412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575241089	chr11:32768429-32768430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs11031963	chr11:32768431-32768432	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559198542	chr11:32768437-32768438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs113857272	chr11:32768473-32768474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs35846602	chr11:32768510-32768511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs537953867	chr11:32768518-32768519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540705303	chr11:32768538-32768539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs367726105	chr11:32768552-32768553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113947359	chr11:32768585-32768586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190644763	chr11:32768665-32768666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs4980792	chr11:32768669-32768670	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs199977140	chr11:32768675-32768676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs181538629	chr11:32768708-32768709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532040022	chr11:32768730-32768731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs148968731	chr11:32768756-32768757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs4980791	chr11:32768765-32768766	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564095433	chr11:32768771-32768772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs532902693	chr11:32768797-32768798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546649412	chr11:32768822-32768823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566554562	chr11:32768852-32768853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143798503	chr11:32768870-32768871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs186450887	chr11:32768875-32768876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs190910608	chr11:32768877-32768878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537724239	chr11:32768899-32768900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7952286	chr11:32768916-32768917	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577934348	chr11:32768932-32768933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs376593552	chr11:32768948-32768949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs534056064	chr11:32768972-32768973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs554192502	chr11:32768987-32768988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11500263	chr11:32768988-32768989	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12799713	chr11:32768995-32768996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148172242	chr11:32769021-32769022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368939619	chr11:32769048-32769049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs545650830	chr11:32769049-32769050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563950137	chr11:32769051-32769052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187662357	chr11:32769094-32769095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs190934862	chr11:32769095-32769096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531254195	chr11:32769105-32769106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32739000-32745600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:32768200-32769600	ZNF genes & repeats	Liver	Liver
3	chr11:32769200-32769400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:32769400-32774000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:32777800-32790200	Weak transcription	Liver	Liver
6	chr11:32779800-32780200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:32779800-32780200	Enhancers	HMEC	breast
8	chr11:32779800-32780200	Enhancers	NHEK	skin
9	chr11:32782000-32782200	Enhancers	HMEC	breast

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