Variant report

Variant	nsv975380
Chromosome Location	chr11:75721675-75728222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75726530..75729145-chr11:75729300..75731180,2	K562	blood:
2	chr11:75721591..75723441-chr11:75726298..75728492,2	K562	blood:
3	chr11:75725861..75727648-chr11:75734712..75737245,2	K562	blood:
4	chr11:75705246..75709045-chr11:75721805..75725477,3	MCF-7	breast:
5	chr11:75721591..75723441-chr11:75726298..75728492,2	K562	blood:

Extended variants
information (count: 211 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:211 , 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	rs369690149	chr11:75721692-75721693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374037222	chr11:75721745-75721746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11236598	chr11:75721763-75721764	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148093367	chr11:75721780-75721781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568607985	chr11:75721792-75721793	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527670109	chr11:75721797-75721798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141856043	chr11:75721834-75721835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188489512	chr11:75721858-75721859	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371115979	chr11:75721862-75721863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558823895	chr11:75721911-75721912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191770196	chr11:75721987-75721988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568914859	chr11:75722082-75722083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573759970	chr11:75722087-75722088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184315240	chr11:75722105-75722106	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77308746	chr11:75722128-75722129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150215584	chr11:75722141-75722142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574228616	chr11:75722174-75722175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138849118	chr11:75722197-75722198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556415078	chr11:75722325-75722326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533378378	chr11:75722328-75722329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188708902	chr11:75722329-75722330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575851821	chr11:75722361-75722362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117549665	chr11:75722405-75722406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116352956	chr11:75722434-75722435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560155495	chr11:75722454-75722455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529599374	chr11:75722470-75722471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542443195	chr11:75722481-75722482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562140426	chr11:75722487-75722488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549039919	chr11:75722528-75722529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147510628	chr11:75722571-75722572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572253743	chr11:75722600-75722601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111826646	chr11:75722614-75722615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140144721	chr11:75722626-75722627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183865342	chr11:75722710-75722711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571369219	chr11:75722777-75722778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190488474	chr11:75722783-75722784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80030917	chr11:75722787-75722788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569176121	chr11:75722816-75722817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537630266	chr11:75722852-75722853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11236599	chr11:75722874-75722875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538697656	chr11:75722886-75722887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567927446	chr11:75722892-75722893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182241699	chr11:75722916-75722917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186966906	chr11:75722956-75722957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553452059	chr11:75722961-75722962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116968496	chr11:75722968-75722969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371286188	chr11:75722977-75722978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534564657	chr11:75722979-75722980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557578329	chr11:75723043-75723044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143857031	chr11:75723073-75723074	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75693000-75728200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:75693000-75730000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:75695600-75728000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:75701800-75721800	Weak transcription	Small Intestine	intestine
5	chr11:75701800-75726200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:75708800-75727800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:75709200-75745400	Weak transcription	Psoas Muscle	Psoas
8	chr11:75711600-75743600	Weak transcription	Pancreas	Pancrea
9	chr11:75712600-75725800	Strong transcription	GM12878-XiMat	blood
10	chr11:75712600-75726200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:75712800-75723400	Weak transcription	Brain Anterior Caudate	brain
12	chr11:75712800-75727800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:75712800-75731200	Weak transcription	Right Ventricle	heart
14	chr11:75713000-75723600	Weak transcription	Fetal Brain Male	brain
15	chr11:75713200-75728000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:75713200-75728200	Weak transcription	Fetal Kidney	kidney
17	chr11:75713600-75721800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:75713600-75728600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:75713600-75734600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:75713800-75737200	Strong transcription	Primary B cells from cord blood	blood
21	chr11:75713800-75739600	Weak transcription	Fetal Brain Female	brain
22	chr11:75714800-75722200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:75714800-75724400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:75715000-75722200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:75715000-75724000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:75715600-75728000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:75716000-75728400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:75716800-75723400	Weak transcription	Fetal Lung	lung
29	chr11:75716800-75728000	Weak transcription	Hela-S3	cervix
30	chr11:75716800-75734200	Weak transcription	K562	blood
31	chr11:75716800-75734800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:75716800-75778200	Weak transcription	Ovary	ovary
33	chr11:75717000-75723600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:75717000-75723600	Weak transcription	Brain Substantia Nigra	brain
35	chr11:75717000-75724000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:75717000-75728000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:75717000-75728200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:75717000-75728200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:75717000-75728400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:75717000-75728400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:75717000-75730200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:75717000-75730600	Weak transcription	Fetal Thymus	thymus
43	chr11:75717000-75730800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:75717000-75736200	Weak transcription	Brain Angular Gyrus	brain
45	chr11:75717000-75741200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:75717200-75723600	Weak transcription	Aorta	Aorta
47	chr11:75717200-75727800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:75717200-75730600	Weak transcription	Lung	lung
49	chr11:75717200-75730800	Weak transcription	Fetal Intestine Large	intestine
50	chr11:75717200-75730800	Weak transcription	Fetal Muscle Trunk	muscle

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