Variant report

Variant	nsv975354
Chromosome Location	chr11:33001257-33006621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33004103..33008077-chr11:33008139..33011033,3	MCF-7	breast:
2	chr11:32998685..33000407-chr11:33002491..33003998,2	K562	blood:
3	chr11:32994287..32996312-chr11:32999002..33001854,3	K562	blood:
4	chr11:33004824..33006532-chr11:33024941..33027529,2	K562	blood:
5	chr11:32996304..32999169-chr11:33001880..33003438,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200615	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs530216602	chr11:33001288-33001289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544056652	chr11:33001309-33001310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80051611	chr11:33001453-33001454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144162603	chr11:33001513-33001514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552616745	chr11:33001527-33001528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557720669	chr11:33001539-33001540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576719733	chr11:33001547-33001548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148499889	chr11:33001609-33001610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184330814	chr11:33001805-33001806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538994612	chr11:33001823-33001824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111598969	chr11:33001855-33001856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547357312	chr11:33001929-33001930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567067895	chr11:33002002-33002003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189107669	chr11:33002013-33002014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12792969	chr11:33002023-33002024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569539091	chr11:33002052-33002053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538781706	chr11:33002059-33002060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536479660	chr11:33002088-33002089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142782826	chr11:33002183-33002184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151044627	chr11:33002211-33002212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534756490	chr11:33002239-33002240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555589397	chr11:33002245-33002246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575020005	chr11:33002246-33002247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181226873	chr11:33002254-33002255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541608455	chr11:33002279-33002280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376573115	chr11:33002300-33002301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577369144	chr11:33002329-33002330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559515826	chr11:33002342-33002343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79818192	chr11:33002381-33002382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74658717	chr11:33002382-33002383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78343667	chr11:33002392-33002393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542251336	chr11:33002393-33002394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559832848	chr11:33002438-33002439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528777111	chr11:33002442-33002443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547104474	chr11:33002456-33002457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560568195	chr11:33002468-33002469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529617078	chr11:33002494-33002495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371530676	chr11:33002508-33002509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144764459	chr11:33002554-33002555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147919519	chr11:33002563-33002564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563143532	chr11:33002611-33002612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530486991	chr11:33002639-33002640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114939437	chr11:33002641-33002642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141754287	chr11:33002643-33002644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552346608	chr11:33002729-33002730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186471662	chr11:33002742-33002743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534901411	chr11:33002771-33002772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549025097	chr11:33002785-33002786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147107050	chr11:33002857-33002858	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554868443	chr11:33002869-33002870	Weak transcription Genic enhancers Enhancers	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32955600-33003800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:32968200-33002000	Weak transcription	Brain Substantia Nigra	brain
3	chr11:32968200-33003000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:32968800-33002000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:32970200-33001800	Weak transcription	Psoas Muscle	Psoas
6	chr11:32973000-33003200	Weak transcription	NHLF	lung
7	chr11:32973200-33008600	Weak transcription	HSMMtube	muscle
8	chr11:32975200-33001800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:32975600-33002200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:32975800-33001800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:32975800-33002000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:32975800-33002000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:32975800-33003000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:32978600-33002000	Weak transcription	Colonic Mucosa	Colon
15	chr11:32979600-33009400	Weak transcription	Stomach Mucosa	stomach
16	chr11:32980200-33002000	Weak transcription	Pancreas	Pancrea
17	chr11:32980200-33002000	Weak transcription	Spleen	Spleen
18	chr11:32980800-33003000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:32980800-33005400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:32981600-33003400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:32987000-33002200	Weak transcription	Osteobl	bone
22	chr11:32987000-33003000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:32988800-33002200	Weak transcription	Brain Germinal Matrix	brain
24	chr11:32990400-33008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:32991200-33001400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:32994600-33003200	Weak transcription	Fetal Heart	heart
27	chr11:32995000-33001800	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:32995000-33002000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:32995000-33004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:32995400-33002000	Weak transcription	Brain Anterior Caudate	brain
31	chr11:32995400-33005200	Weak transcription	NHEK	skin
32	chr11:32996000-33001800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:32996000-33001800	Weak transcription	Gastric	stomach
34	chr11:32996000-33002200	Weak transcription	Esophagus	oesophagus
35	chr11:32996000-33002800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:32996000-33003000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:32996000-33005000	Weak transcription	Fetal Stomach	stomach
38	chr11:32996000-33006000	Weak transcription	Left Ventricle	heart
39	chr11:32996000-33006200	Weak transcription	Thymus	Thymus
40	chr11:32996000-33008800	Weak transcription	Ovary	ovary
41	chr11:32996000-33009400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:32996000-33010000	Weak transcription	Fetal Intestine Small	intestine
43	chr11:32997400-33002000	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:32997400-33002000	Weak transcription	Fetal Brain Male	brain
45	chr11:32997600-33002000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:32997600-33002000	Weak transcription	Brain Angular Gyrus	brain
47	chr11:32997800-33002000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:32998000-33003200	Weak transcription	NHDF-Ad	bronchial
49	chr11:32998000-33005200	Weak transcription	Fetal Intestine Large	intestine
50	chr11:32998200-33001600	Weak transcription	HUVEC	blood vessel

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