Variant report

Variant	nsv898026
Chromosome Location	chr11:83685801-83789540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:83708534..83710057-chr11:83729711..83731527,2	K562	blood:
2	chr11:83708534..83710057-chr11:83729711..83731527,2	K562	blood:
3	chr11:83756394..83757894-chr8:43091429..43092930,2	MCF-7	breast:
4	chr11:83757394..83757894-chr8:43092430..43092931,2	MCF-7	breast:
5	chr11:83715504..83717050-chr11:83718239..83720670,2	K562	blood:
6	chr11:83715504..83717050-chr11:83718239..83720670,2	K562	blood:

Extended variants
information (count: 3195 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:3195 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1994150	chr11:83685801-83685802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35990771	chr11:83685851-83685852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs34279739	chr11:83685860-83685861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554233776	chr11:83685889-83685890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182313545	chr11:83685892-83685893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114714464	chr11:83685897-83685898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561232148	chr11:83685917-83685918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200674188	chr11:83685922-83685923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34436974	chr11:83685924-83685925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544081223	chr11:83685967-83685968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565620130	chr11:83686017-83686018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532738217	chr11:83686018-83686019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529281041	chr11:83686103-83686104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186964856	chr11:83686112-83686113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71465575	chr11:83686159-83686160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547905805	chr11:83686213-83686214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569264293	chr11:83686227-83686228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536655432	chr11:83686239-83686240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71465576	chr11:83686254-83686255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570700724	chr11:83686257-83686258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368501897	chr11:83686269-83686270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534792450	chr11:83686325-83686326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555974727	chr11:83686380-83686381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574589425	chr11:83686386-83686387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58364991	chr11:83686399-83686400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191709138	chr11:83686403-83686404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11233869	chr11:83686414-83686415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71465577	chr11:83686428-83686429	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs71465578	chr11:83686440-83686441	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565551389	chr11:83686463-83686464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368717099	chr11:83686471-83686472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556263186	chr11:83686476-83686477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532728304	chr11:83686511-83686512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371109739	chr11:83686519-83686520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374539459	chr11:83686536-83686537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71465579	chr11:83686572-83686573	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs71465580	chr11:83686609-83686610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs71465581	chr11:83686635-83686636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs71465582	chr11:83686662-83686663	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542533729	chr11:83686665-83686666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183219019	chr11:83686700-83686701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569450658	chr11:83686748-83686749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116989177	chr11:83686770-83686771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2514148	chr11:83686802-83686803	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550682665	chr11:83686836-83686837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187236672	chr11:83686854-83686855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189738623	chr11:83686872-83686873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568113940	chr11:83686891-83686892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75539347	chr11:83686907-83686908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146058272	chr11:83686918-83686919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83682800-83687000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:83682800-83687200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:83683600-83686400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:83683800-83692000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:83684000-83686800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:83684000-83687000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:83684000-83687000	Weak transcription	Brain Anterior Caudate	brain
8	chr11:83684000-83687000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:83684000-83687000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:83684000-83687200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:83684000-83690400	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:83684000-83690600	Weak transcription	Brain Substantia Nigra	brain
13	chr11:83686400-83688600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:83686800-83688400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:83686800-83688600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:83687000-83687600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:83687000-83687600	Enhancers	Brain Angular Gyrus	brain
18	chr11:83687000-83687600	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:83687000-83687600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr11:83687000-83687600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr11:83687000-83688400	Enhancers	Brain Anterior Caudate	brain
22	chr11:83687200-83687400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:83687200-83687600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:83687400-83690600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:83687600-83690600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:83687600-83690600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:83687600-83693000	Weak transcription	Brain Angular Gyrus	brain
28	chr11:83688400-83689000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:83688400-83692000	Weak transcription	Brain Anterior Caudate	brain
30	chr11:83688600-83689800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:83688600-83690400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:83689800-83690000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:83689800-83692200	Enhancers	Fetal Heart	heart
34	chr11:83690000-83690400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:83690400-83690800	Enhancers	Brain Germinal Matrix	brain
36	chr11:83690400-83691200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:83690400-83691400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:83690400-83691600	Enhancers	Brain Hippocampus Middle	brain
39	chr11:83690600-83691000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr11:83690600-83691000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr11:83690600-83691400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:83690600-83691600	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:83690600-83692200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:83690600-83692200	Enhancers	Brain Substantia Nigra	brain
45	chr11:83690800-83691200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr11:83691600-83693800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:83691600-83701200	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:83692000-83692200	Enhancers	Brain Anterior Caudate	brain
49	chr11:83692000-83692200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:83692200-83693000	Weak transcription	Brain Substantia Nigra	brain

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