Variant report

Variant	nsv826124
Chromosome Location	chr11:127545193-127580415
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..127565555-chr11:127568028..127572641,4	K562	blood:
3	chr11:127561976..127564649-chr11:127569398..127572641,3	K562	blood:
4	chr11:127561976..127564649-chr11:127569398..127572641,3	K562	blood:

Extended variants
information (count: 262 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:262 , 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	rs564188585	chr11:127545206-127545207	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532918518	chr11:127545247-127545248	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147216440	chr11:127545292-127545293	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542614719	chr11:127545306-127545307	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78340688	chr11:127545311-127545312	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529638996	chr11:127545324-127545325	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549300466	chr11:127545335-127545336	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7927340	chr11:127545368-127545369	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566219592	chr11:127545374-127545375	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180900059	chr11:127545390-127545391	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17136822	chr11:127545470-127545471	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117095123	chr11:127545561-127545562	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs571444496	chr11:127545602-127545603	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs557974896	chr11:127545626-127545627	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs528779554	chr11:127545643-127545644	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs577794706	chr11:127545644-127545645	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs186259097	chr11:127545654-127545655	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs138963069	chr11:127545655-127545656	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs569607247	chr11:127545706-127545707	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs142685306	chr11:127545836-127545837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532698804	chr11:127545848-127545849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555376081	chr11:127545860-127545861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74860348	chr11:127545861-127545862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534531387	chr11:127545939-127545940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147358417	chr11:127545952-127545953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12278462	chr11:127546012-127546013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543438495	chr11:127546027-127546028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139075374	chr11:127546039-127546040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11221005	chr11:127546043-127546044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573559764	chr11:127546067-127546068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543279342	chr11:127546084-127546085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149907374	chr11:127546101-127546102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190243282	chr11:127546106-127546107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541763918	chr11:127546173-127546174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569308541	chr11:127546184-127546185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551590519	chr11:127546185-127546186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536276999	chr11:127546190-127546191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181378669	chr11:127546200-127546201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75909017	chr11:127546206-127546207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550671607	chr11:127546288-127546289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567601482	chr11:127546305-127546306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144762721	chr11:127546312-127546313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368776215	chr11:127546328-127546329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530878674	chr11:127546338-127546339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549223092	chr11:127546470-127546471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148559861	chr11:127546479-127546480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534794571	chr11:127546496-127546497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544177891	chr11:127546662-127546663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77243183	chr11:127546663-127546664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533122814	chr11:127546668-127546669	Weak transcription Enhancers	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:127540400-127545600	Weak transcription	Gastric	stomach
2	chr11:127541000-127545400	Weak transcription	Fetal Lung	lung
3	chr11:127544600-127545200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:127545000-127545200	Enhancers	Aorta	Aorta
5	chr11:127545000-127545800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:127545000-127546000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:127545000-127549400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:127545200-127545400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr11:127545200-127545800	Bivalent Enhancer	Aorta	Aorta
10	chr11:127545200-127545800	Enhancers	Left Ventricle	heart
11	chr11:127545200-127545800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:127545200-127546000	Enhancers	Liver	Liver
13	chr11:127545200-127546000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:127545200-127546000	Enhancers	Pancreas	Pancrea
15	chr11:127545200-127546000	Enhancers	Spleen	Spleen
16	chr11:127545200-127546200	Enhancers	Adipose Nuclei	Adipose
17	chr11:127545200-127546200	Enhancers	Brain Hippocampus Middle	brain
18	chr11:127545200-127546200	Enhancers	Fetal Intestine Small	intestine
19	chr11:127545200-127546400	Enhancers	Psoas Muscle	Psoas
20	chr11:127545200-127547400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:127545400-127546000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:127545400-127546000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:127545400-127546000	Enhancers	Rectal Smooth Muscle	rectum
24	chr11:127545400-127546000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:127545400-127546200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:127545400-127546200	Enhancers	Duodenum Mucosa	Duodenum
27	chr11:127545400-127546200	Enhancers	Fetal Lung	lung
28	chr11:127545400-127546400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:127545400-127547600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:127545600-127545800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:127545600-127545800	Enhancers	Brain Germinal Matrix	brain
32	chr11:127545600-127545800	Enhancers	Fetal Brain Female	brain
33	chr11:127545600-127545800	Enhancers	Gastric	stomach
34	chr11:127545600-127546000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:127545600-127546000	Enhancers	Brain Cingulate Gyrus	brain
36	chr11:127545600-127546000	Enhancers	Colon Smooth Muscle	Colon
37	chr11:127545600-127546000	Enhancers	Fetal Stomach	stomach
38	chr11:127545600-127546000	Enhancers	Right Atrium	heart
39	chr11:127545600-127546000	Enhancers	Small Intestine	intestine
40	chr11:127545600-127546200	Enhancers	Brain Anterior Caudate	brain
41	chr11:127545800-127547400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:127546000-127546200	Enhancers	Fetal Brain Male	brain
43	chr11:127546000-127546200	Enhancers	Fetal Heart	heart
44	chr11:127546000-127547200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:127546000-127547200	Weak transcription	Spleen	Spleen
46	chr11:127546000-127547400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:127546200-127549200	Weak transcription	Fetal Intestine Small	intestine
48	chr11:127547200-127549000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:127547400-127547600	Enhancers	Spleen	Spleen
50	chr11:127547400-127547800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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