Variant report

Variant	nsv1050596
Chromosome Location	chr11:127528390-127608257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:127561976..127565555-chr11:127568028..127572641,4	K562	blood:
2	chr11:127561976..127564649-chr11:127569398..127572641,3	K562	blood:
3	chr11:127561976..127565555-chr11:127568028..127572641,4	K562	blood:
4	chr11:127580769..127582770-chr11:127586879..127588885,2	MCF-7	breast:
5	chr11:127561976..127564649-chr11:127569398..127572641,3	K562	blood:
6	chr11:127580769..127582770-chr11:127586879..127588885,2	MCF-7	breast:

Extended variants
information (count: 880 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552281770	chr11:127534036-127534037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569194936	chr11:127534059-127534060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537857052	chr11:127534070-127534071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375968388	chr11:127534071-127534072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7932207	chr11:127534076-127534077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560016320	chr11:127534080-127534081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184976713	chr11:127534092-127534093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528681689	chr11:127534101-127534102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547534679	chr11:127534102-127534103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553232582	chr11:127534146-127534147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369628249	chr11:127534227-127534228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115587896	chr11:127534235-127534236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188182487	chr11:127534270-127534271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575130249	chr11:127534330-127534331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543884758	chr11:127534388-127534389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561211230	chr11:127534402-127534403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2928044	chr11:127534433-127534434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs540402961	chr11:127534434-127534435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191453349	chr11:127534493-127534494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184013223	chr11:127534495-127534496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552596240	chr11:127534522-127534523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141797035	chr11:127534542-127534543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115094607	chr11:127534585-127534586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548638228	chr11:127534628-127534629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567545680	chr11:127534703-127534704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574223876	chr11:127534727-127534728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115404853	chr11:127534753-127534754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566619253	chr11:127534774-127534775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538458291	chr11:127534796-127534797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144602199	chr11:127534844-127534845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575257182	chr11:127534916-127534917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537429722	chr11:127534945-127534946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554169586	chr11:127534969-127534970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538656845	chr11:127540228-127540229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551623739	chr11:127540262-127540263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114252795	chr11:127540268-127540269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74827413	chr11:127540295-127540296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543355949	chr11:127540376-127540377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557242769	chr11:127540380-127540381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35647219	chr11:127540384-127540385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531983463	chr11:127540394-127540395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147793443	chr11:127540402-127540403	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77271606	chr11:127540403-127540404	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572770258	chr11:127540452-127540453	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35628599	chr11:127540475-127540476	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78847143	chr11:127540518-127540519	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555202560	chr11:127540519-127540520	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561559024	chr11:127540521-127540522	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79320602	chr11:127540553-127540554	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544398693	chr11:127540557-127540558	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	20729466	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Multiple myeloma	17550852	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	20823134	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19571808	CNVD
Multiple myeloma	16616336	CNVD
Myelodysplastic syndrome	18663149	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Urothelial carcinoma	21177765	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21045282	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:127534000-127534600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:127534000-127534600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:127534000-127535000	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:127540200-127540400	Enhancers	Gastric	stomach
5	chr11:127540400-127540600	Active TSS	Fetal Lung	lung
6	chr11:127540400-127545600	Weak transcription	Gastric	stomach
7	chr11:127540600-127540800	Flanking Active TSS	Fetal Lung	lung
8	chr11:127540800-127541000	Enhancers	Fetal Lung	lung
9	chr11:127541000-127545400	Weak transcription	Fetal Lung	lung
10	chr11:127544600-127545200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:127545000-127545200	Enhancers	Aorta	Aorta
12	chr11:127545000-127545800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:127545000-127546000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:127545000-127549400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:127545200-127545400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr11:127545200-127545800	Bivalent Enhancer	Aorta	Aorta
17	chr11:127545200-127545800	Enhancers	Left Ventricle	heart
18	chr11:127545200-127545800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:127545200-127546000	Enhancers	Liver	Liver
20	chr11:127545200-127546000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:127545200-127546000	Enhancers	Pancreas	Pancrea
22	chr11:127545200-127546000	Enhancers	Spleen	Spleen
23	chr11:127545200-127546200	Enhancers	Adipose Nuclei	Adipose
24	chr11:127545200-127546200	Enhancers	Brain Hippocampus Middle	brain
25	chr11:127545200-127546200	Enhancers	Fetal Intestine Small	intestine
26	chr11:127545200-127546400	Enhancers	Psoas Muscle	Psoas
27	chr11:127545200-127547400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:127545400-127546000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr11:127545400-127546000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:127545400-127546000	Enhancers	Rectal Smooth Muscle	rectum
31	chr11:127545400-127546000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:127545400-127546200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:127545400-127546200	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:127545400-127546200	Enhancers	Fetal Lung	lung
35	chr11:127545400-127546400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:127545400-127547600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:127545600-127545800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:127545600-127545800	Enhancers	Brain Germinal Matrix	brain
39	chr11:127545600-127545800	Enhancers	Fetal Brain Female	brain
40	chr11:127545600-127545800	Enhancers	Gastric	stomach
41	chr11:127545600-127546000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:127545600-127546000	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:127545600-127546000	Enhancers	Colon Smooth Muscle	Colon
44	chr11:127545600-127546000	Enhancers	Fetal Stomach	stomach
45	chr11:127545600-127546000	Enhancers	Right Atrium	heart
46	chr11:127545600-127546000	Enhancers	Small Intestine	intestine
47	chr11:127545600-127546200	Enhancers	Brain Anterior Caudate	brain
48	chr11:127545800-127547400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:127546000-127546200	Enhancers	Fetal Brain Male	brain
50	chr11:127546000-127546200	Enhancers	Fetal Heart	heart

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