Variant report

Variant	nsv972895
Chromosome Location	chr11:35259840-35266507
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:35256103..35261501-chr11:35384186..35388588,8	MCF-7	breast:
2	chr11:34938207..34939863-chr11:35260000..35262264,2	K562	blood:
3	chr11:35253382..35256689-chr11:35262779..35266276,3	K562	blood:
4	chr11:34961886..34962391-chr11:35259545..35260066,2	MCF-7	breast:
5	chr11:35260075..35262709-chr11:35271623..35274355,2	K562	blood:
6	chr11:35249750..35251832-chr11:35258171..35261119,2	K562	blood:
7	chr11:35258928..35261277-chr11:35264057..35266573,2	K562	blood:
8	chr11:35258018..35260931-chr11:35412299..35415204,2	MCF-7	breast:
9	chr11:35253382..35256369-chr11:35263187..35265388,2	K562	blood:
10	chr11:35258928..35261277-chr11:35264057..35266573,2	K562	blood:
11	chr11:35262350..35264574-chr11:35271788..35273676,2	MCF-7	breast:

No data

Extended variants
information (count: 291 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10742334	chr11:35259841-35259842	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535770570	chr11:35259843-35259844	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139206735	chr11:35259847-35259848	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575802199	chr11:35259856-35259857	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs75859479	chr11:35259863-35259864	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs191126106	chr11:35259868-35259869	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10742335	chr11:35259882-35259883	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11033035	chr11:35259894-35259895	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544033968	chr11:35259910-35259911	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10742336	chr11:35259924-35259925	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10742337	chr11:35259941-35259942	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542117192	chr11:35259951-35259952	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10836352	chr11:35260057-35260058	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530831484	chr11:35260062-35260063	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149945775	chr11:35260067-35260068	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563926040	chr11:35260085-35260086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75736424	chr11:35260094-35260095	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182965100	chr11:35260098-35260099	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566144847	chr11:35260119-35260120	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535040595	chr11:35260125-35260126	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7109359	chr11:35260187-35260188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569494678	chr11:35260190-35260191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs538520273	chr11:35260191-35260192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs10836353	chr11:35260226-35260227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs578201005	chr11:35260235-35260236	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34130932	chr11:35260264-35260265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs80173332	chr11:35260297-35260298	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147879871	chr11:35260359-35260360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574085653	chr11:35260363-35260364	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs187640447	chr11:35260393-35260394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563442954	chr11:35260423-35260424	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs35584897	chr11:35260440-35260441	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191156780	chr11:35260488-35260489	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575485737	chr11:35260515-35260516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs117793427	chr11:35260526-35260527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs563965393	chr11:35260600-35260601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs183438080	chr11:35260611-35260612	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187983313	chr11:35260638-35260639	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs192549332	chr11:35260675-35260676	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs183664650	chr11:35260685-35260686	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs528978103	chr11:35260723-35260724	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376995902	chr11:35260786-35260787	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs547332997	chr11:35260830-35260831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11033036	chr11:35260927-35260928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs80259018	chr11:35260935-35260936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538184441	chr11:35260956-35260957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61882792	chr11:35260971-35260972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35042896	chr11:35260981-35260982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187635023	chr11:35260985-35260986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566833271	chr11:35261001-35261002	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:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35247000-35263200	Weak transcription	HSMMtube	muscle
2	chr11:35253000-35260400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:35254600-35264000	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:35254600-35264000	Weak transcription	NHLF	lung
5	chr11:35255400-35266800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:35255600-35260800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:35256600-35260000	Enhancers	NHEK	skin
8	chr11:35256600-35260200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr11:35256600-35260200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr11:35256600-35260200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:35256600-35260400	Enhancers	Primary T cells from cord blood	blood
12	chr11:35256600-35260400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:35256600-35261200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:35256800-35260000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr11:35256800-35260600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:35257000-35260000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:35257400-35260200	Enhancers	Fetal Thymus	thymus
18	chr11:35257400-35261800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:35257600-35260200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:35258200-35263000	Weak transcription	HSMM	muscle
21	chr11:35258400-35260800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:35258400-35261200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr11:35258400-35263400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:35258400-35264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:35258400-35267400	Weak transcription	Aorta	Aorta
26	chr11:35258400-35269000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:35258600-35260200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:35258600-35260400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:35258600-35260400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:35258600-35260800	Enhancers	Fetal Lung	lung
31	chr11:35258600-35261400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr11:35258600-35263000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:35258600-35263200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:35258800-35260200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:35258800-35264000	Weak transcription	NHDF-Ad	bronchial
36	chr11:35258800-35267400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:35259000-35260200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:35259000-35263400	Weak transcription	Osteobl	bone
39	chr11:35259200-35260000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:35259200-35260000	Enhancers	GM12878-XiMat	blood
41	chr11:35259200-35260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:35259200-35270200	Weak transcription	Stomach Mucosa	stomach
43	chr11:35259400-35260000	Enhancers	Primary B cells from cord blood	blood
44	chr11:35259400-35260000	Enhancers	Lung	lung
45	chr11:35259400-35260000	Enhancers	Right Atrium	heart
46	chr11:35259400-35260000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:35259400-35260200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:35259400-35260200	Enhancers	Brain Substantia Nigra	brain
49	chr11:35259400-35260600	Enhancers	Pancreas	Pancrea
50	chr11:35259400-35261200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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