Variant report

Variant	nsv898062
Chromosome Location	chr11:86864277-86902079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86889371..86892096-chr11:86895507..86898091,3	K562	blood:
2	chr11:86895352..86897026-chr11:86899805..86901720,2	K562	blood:
3	chr11:86867900..86869412-chr11:86871775..86874240,2	K562	blood:
4	chr11:86899712..86901382-chr11:86903626..86906084,2	K562	blood:
5	chr11:86867900..86869412-chr11:86871775..86874240,2	K562	blood:
6	chr11:86889371..86892096-chr11:86895507..86898091,3	K562	blood:
7	chr11:86900182..86903492-chr11:86905711..86910083,4	K562	blood:
8	chr11:86895352..86897026-chr11:86899805..86901720,2	K562	blood:

No data

Extended variants
information (count: 1622 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1622 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566046	chr11:86864277-86864278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184500244	chr11:86864295-86864296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199870534	chr11:86864345-86864346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78406654	chr11:86864350-86864351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7945171	chr11:86864363-86864364	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11234994	chr11:86864382-86864383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565938	chr11:86864416-86864417	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139944059	chr11:86864442-86864443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11234995	chr11:86864510-86864511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376559131	chr11:86864539-86864540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537961513	chr11:86864557-86864558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189147395	chr11:86864565-86864566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143474256	chr11:86864650-86864651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534217930	chr11:86864812-86864813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371565937	chr11:86864818-86864819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572869427	chr11:86864819-86864820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77538094	chr11:86864824-86864825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs482258	chr11:86864892-86864893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556812043	chr11:86864899-86864900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575383802	chr11:86864924-86864925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544327275	chr11:86864951-86864952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564029671	chr11:86865030-86865031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193291048	chr11:86865051-86865052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185485923	chr11:86865058-86865059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560422469	chr11:86865097-86865098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146744655	chr11:86865101-86865102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12099360	chr11:86865103-86865104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189174777	chr11:86865126-86865127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140409346	chr11:86865174-86865175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376272398	chr11:86865197-86865198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544119806	chr11:86865221-86865222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117602185	chr11:86865241-86865242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571550203	chr11:86865264-86865265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200569737	chr11:86865334-86865335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs680192	chr11:86865341-86865342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547757852	chr11:86865387-86865388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567916092	chr11:86865448-86865449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545288100	chr11:86865455-86865456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560461575	chr11:86865460-86865461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375378781	chr11:86865461-86865462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536967092	chr11:86865470-86865471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542102648	chr11:86865503-86865504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527312469	chr11:86865520-86865521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576719111	chr11:86865531-86865532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537929390	chr11:86865565-86865566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557880572	chr11:86865571-86865572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577542031	chr11:86865611-86865612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540257520	chr11:86865647-86865648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548960928	chr11:86865654-86865655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112015849	chr11:86865662-86865663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86809000-86876000	Weak transcription	Left Ventricle	heart
2	chr11:86836800-86877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:86851200-86872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:86853400-86866600	Weak transcription	Right Atrium	heart
5	chr11:86855600-86865600	Weak transcription	Small Intestine	intestine
6	chr11:86860600-86866600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:86862200-86867800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:86862600-86866600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:86862600-86867400	Weak transcription	HUVEC	blood vessel
10	chr11:86862600-86871600	Weak transcription	Primary T cells from cord blood	blood
11	chr11:86863200-86865800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:86863200-86866600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:86863200-86866600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:86863200-86866600	Weak transcription	Psoas Muscle	Psoas
15	chr11:86863200-86866600	Weak transcription	HepG2	liver
16	chr11:86863200-86867000	Weak transcription	Adipose Nuclei	Adipose
17	chr11:86864000-86866600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:86864200-86864400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:86864400-86864600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr11:86864600-86865800	Weak transcription	A549	lung
21	chr11:86865600-86865800	Enhancers	Small Intestine	intestine
22	chr11:86866200-86866800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:86866400-86866800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:86866600-86866800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:86866600-86866800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr11:86866600-86866800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:86866600-86866800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr11:86866600-86866800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:86866600-86866800	Enhancers	Psoas Muscle	Psoas
30	chr11:86866600-86866800	Enhancers	Right Atrium	heart
31	chr11:86866600-86867000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:86866600-86867000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:86866600-86867000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:86866600-86867000	Enhancers	Brain Anterior Caudate	brain
35	chr11:86866600-86867000	Enhancers	Brain Substantia Nigra	brain
36	chr11:86866600-86867600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:86866600-86868200	Enhancers	HepG2	liver
38	chr11:86867000-86867600	Enhancers	Adipose Nuclei	Adipose
39	chr11:86867000-86888600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:86867400-86868000	Enhancers	HUVEC	blood vessel
41	chr11:86867600-86884200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:86868200-86881800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:86868200-86884200	Weak transcription	HepG2	liver
44	chr11:86870400-86884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:86872600-86873000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:86872600-86873000	Enhancers	Fetal Heart	heart
47	chr11:86872600-86873000	Enhancers	Osteobl	bone
48	chr11:86872600-86873200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:86872800-86873200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:86872800-86873200	Enhancers	HSMMtube	muscle

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