Variant report

Variant	nsv975098
Chromosome Location	chr11:35261190-35266507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:35258928..35261277-chr11:35264057..35266573,2	K562	blood:
2	chr11:35253382..35256369-chr11:35263187..35265388,2	K562	blood:
3	chr11:35262350..35264574-chr11:35271788..35273676,2	MCF-7	breast:
4	chr11:34938207..34939863-chr11:35260000..35262264,2	K562	blood:
5	chr11:35258928..35261277-chr11:35264057..35266573,2	K562	blood:
6	chr11:35256103..35261501-chr11:35384186..35388588,8	MCF-7	breast:
7	chr11:35253382..35256689-chr11:35262779..35266276,3	K562	blood:
8	chr11:35260075..35262709-chr11:35271623..35274355,2	K562	blood:

No data

Extended variants
information (count: 234 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544198046	chr11:35261228-35261229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557587760	chr11:35261244-35261245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556868917	chr11:35261245-35261246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577417451	chr11:35261259-35261260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575433702	chr11:35261278-35261279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536319533	chr11:35261280-35261281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78014952	chr11:35261297-35261298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79817247	chr11:35261320-35261321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529011419	chr11:35261336-35261337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116148722	chr11:35261344-35261345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562365274	chr11:35261351-35261352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10488812	chr11:35261374-35261375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192615068	chr11:35261466-35261467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17449131	chr11:35261480-35261481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75341949	chr11:35261483-35261484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548046326	chr11:35261504-35261505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11033038	chr11:35261508-35261509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11033039	chr11:35261512-35261513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534241248	chr11:35261515-35261516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556588890	chr11:35261539-35261540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371300157	chr11:35261581-35261582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs118171514	chr11:35261584-35261585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78025942	chr11:35261598-35261599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558789229	chr11:35261614-35261615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184279570	chr11:35261644-35261645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7114332	chr11:35261670-35261671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577554519	chr11:35261673-35261674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540119162	chr11:35261688-35261689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553578798	chr11:35261695-35261696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577031163	chr11:35261723-35261724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145349821	chr11:35261768-35261769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147701098	chr11:35261782-35261783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149161071	chr11:35261822-35261823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544435018	chr11:35261834-35261835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531303759	chr11:35261838-35261839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545064174	chr11:35261849-35261850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4756200	chr11:35261865-35261866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530801106	chr11:35261871-35261872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528022244	chr11:35261882-35261883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548084573	chr11:35261884-35261885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567781674	chr11:35261886-35261887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190399883	chr11:35261919-35261920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143350347	chr11:35261938-35261939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181732826	chr11:35261964-35261965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538735595	chr11:35262014-35262015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561046467	chr11:35262030-35262031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552186043	chr11:35262075-35262076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565713432	chr11:35262078-35262079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533856812	chr11:35262083-35262084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553998782	chr11:35262093-35262094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35247000-35263200	Weak transcription	HSMMtube	muscle
2	chr11:35254600-35264000	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:35254600-35264000	Weak transcription	NHLF	lung
4	chr11:35255400-35266800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:35256600-35261200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr11:35257400-35261800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:35258200-35263000	Weak transcription	HSMM	muscle
8	chr11:35258400-35261200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:35258400-35263400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:35258400-35264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:35258400-35267400	Weak transcription	Aorta	Aorta
12	chr11:35258400-35269000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:35258600-35261400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr11:35258600-35263000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:35258600-35263200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:35258800-35264000	Weak transcription	NHDF-Ad	bronchial
17	chr11:35258800-35267400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:35259000-35263400	Weak transcription	Osteobl	bone
19	chr11:35259200-35270200	Weak transcription	Stomach Mucosa	stomach
20	chr11:35259400-35261200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:35259800-35261600	Weak transcription	Thymus	Thymus
22	chr11:35259800-35261800	Weak transcription	Psoas Muscle	Psoas
23	chr11:35259800-35262800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:35260000-35263000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:35260000-35263800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:35260200-35261600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:35260200-35262800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:35260200-35262800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:35260200-35263000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:35260200-35263000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:35260200-35263600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:35260400-35261400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:35260400-35261400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:35260400-35263000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:35260400-35263400	Weak transcription	Primary T cells from cord blood	blood
36	chr11:35260600-35262000	Weak transcription	Pancreas	Pancrea
37	chr11:35260600-35263600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:35260800-35261400	Enhancers	GM12878-XiMat	blood
39	chr11:35260800-35262600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:35260800-35262600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:35260800-35264000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:35260800-35270200	Weak transcription	Fetal Lung	lung
43	chr11:35261200-35263000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:35261400-35262200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr11:35261600-35262400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:35262000-35262200	Enhancers	Pancreas	Pancrea
47	chr11:35262000-35263000	Enhancers	Fetal Brain Male	brain
48	chr11:35262200-35262400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr11:35262200-35263200	Weak transcription	Pancreas	Pancrea
50	chr11:35262400-35262800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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