Variant report

Variant	nsv1043616
Chromosome Location	chr11:32702734-32734607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:32734492..32735804-chr11:32813911..32815565,5	MCF-7	breast:
2	chr11:32699830..32701629-chr11:32708970..32710563,2	K562	blood:
3	chr11:32723875..32726854-chr11:32913788..32916126,2	K562	blood:
4	chr11:32704711..32706720-chr11:32913831..32915608,2	K562	blood:

Variant related genes	Relation type
ENSG00000060749	chromatin interactions

Extended variants
information (count: 905 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:905 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552687955	chr11:32704723-32704724	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572588548	chr11:32704775-32704776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145115913	chr11:32704785-32704786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567543018	chr11:32704823-32704824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561702994	chr11:32704839-32704840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575509502	chr11:32704868-32704869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12794499	chr11:32704900-32704901	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564369991	chr11:32704929-32704930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373311852	chr11:32704935-32704936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1396995	chr11:32704946-32704947	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560598869	chr11:32704984-32704985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145851301	chr11:32705030-32705031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368410164	chr11:32705034-32705035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370660513	chr11:32705053-32705054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115290211	chr11:32705057-32705058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181071037	chr11:32705063-32705064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72895286	chr11:32705076-32705077	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551702167	chr11:32705097-32705098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139605974	chr11:32705137-32705138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571596828	chr11:32705148-32705149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375903949	chr11:32705167-32705168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539078256	chr11:32705195-32705196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552529904	chr11:32705196-32705197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572915421	chr11:32705248-32705249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535165791	chr11:32705278-32705279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374849747	chr11:32705283-32705284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114438660	chr11:32705292-32705293	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149007730	chr11:32705308-32705309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185349858	chr11:32705353-32705354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559273220	chr11:32705407-32705408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540655337	chr11:32705439-32705440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560482380	chr11:32705449-32705450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529399196	chr11:32705526-32705527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549159622	chr11:32705549-32705550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs115021993	chr11:32705564-32705565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531849125	chr11:32705572-32705573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113266540	chr11:32705588-32705589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150562504	chr11:32705589-32705590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs386373512	chr11:32705596-32705597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35362977	chr11:32705608-32705609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs3981867	chr11:32705611-32705612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551541091	chr11:32705678-32705679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571634924	chr11:32705857-32705858	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534193394	chr11:32705940-32705941	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189707504	chr11:32705963-32705964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183090056	chr11:32706102-32706103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147978676	chr11:32706180-32706181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188167922	chr11:32706227-32706228	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111711554	chr11:32706238-32706239	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145849798	chr11:32706241-32706242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32708800-32709000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:32711000-32725600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:32714400-32714600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:32714400-32714600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:32714600-32716400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:32716200-32717800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:32716400-32717800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:32716800-32717800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:32717200-32717800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:32719800-32720600	Flanking Active TSS	A549	lung
11	chr11:32720000-32720400	Enhancers	HepG2	liver
12	chr11:32720600-32721000	Enhancers	A549	lung
13	chr11:32722800-32724200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr11:32722800-32724600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:32723000-32723600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:32723000-32723600	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:32723000-32723800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:32723200-32723800	Enhancers	Dnd41	blood
19	chr11:32723400-32723800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr11:32723600-32724600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:32723800-32725600	Weak transcription	Dnd41	blood
22	chr11:32724600-32724800	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:32725600-32725800	Enhancers	Gastric	stomach
24	chr11:32725600-32726200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:32725600-32727200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:32725600-32727200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:32725600-32727200	ZNF genes & repeats	Dnd41	blood
28	chr11:32725800-32726400	ZNF genes & repeats	Gastric	stomach
29	chr11:32726800-32727200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:32727000-32727200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:32727000-32729800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:32727600-32728400	Enhancers	A549	lung
33	chr11:32727800-32729600	Enhancers	Hela-S3	cervix
34	chr11:32728200-32728800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:32728200-32729200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:32728200-32729400	Enhancers	GM12878-XiMat	blood
37	chr11:32728200-32729400	Enhancers	HMEC	breast
38	chr11:32728200-32729400	Enhancers	NHLF	lung
39	chr11:32728400-32729000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:32728400-32729000	Enhancers	Osteobl	bone
41	chr11:32728400-32729200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:32728400-32729400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:32728400-32729400	Flanking Active TSS	A549	lung
44	chr11:32728400-32729400	Enhancers	HepG2	liver
45	chr11:32728400-32729600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:32728400-32729600	Enhancers	NHEK	skin
47	chr11:32728600-32728800	Enhancers	NH-A	brain
48	chr11:32728800-32729000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:32728800-32729000	Enhancers	Colon Smooth Muscle	Colon
50	chr11:32728800-32729200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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