Variant report

Variant	esv2488187
Chromosome Location	chr11:86064248-86066066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86063853..86065709-chr11:86072094..86073690,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531185404	chr11:86064261-86064262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11826971	chr11:86064280-86064281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571159096	chr11:86064324-86064325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190160431	chr11:86064330-86064331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552166544	chr11:86064459-86064460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565687432	chr11:86064465-86064466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534654866	chr11:86064472-86064473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9666855	chr11:86064496-86064497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568152362	chr11:86064517-86064518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537285316	chr11:86064568-86064569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556953524	chr11:86064570-86064571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11234621	chr11:86064591-86064592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs545709101	chr11:86064626-86064627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112771361	chr11:86064653-86064654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372232272	chr11:86064667-86064668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572905941	chr11:86064676-86064677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34675041	chr11:86064689-86064690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35254887	chr11:86064737-86064738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs530998177	chr11:86064749-86064750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544821295	chr11:86064756-86064757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11824612	chr11:86064757-86064758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533624423	chr11:86064794-86064795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547313384	chr11:86064884-86064885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565673442	chr11:86064944-86064945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181880937	chr11:86065030-86065031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12224439	chr11:86065094-86065095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548289878	chr11:86065100-86065101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568175543	chr11:86065102-86065103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536768443	chr11:86065106-86065107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369286207	chr11:86065107-86065108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12224453	chr11:86065109-86065110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570564656	chr11:86065116-86065117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575010056	chr11:86065119-86065120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375129645	chr11:86065125-86065126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552896396	chr11:86065126-86065127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186483650	chr11:86065129-86065130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12221741	chr11:86065150-86065151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575667125	chr11:86065155-86065156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7945338	chr11:86065157-86065158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs190193121	chr11:86065169-86065170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7931893	chr11:86065184-86065185	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs370064666	chr11:86065213-86065214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12224449	chr11:86065215-86065216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528070461	chr11:86065218-86065219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548139967	chr11:86065224-86065225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377499532	chr11:86065226-86065227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563720041	chr11:86065231-86065232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561543699	chr11:86065254-86065255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530589402	chr11:86065255-86065256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550408299	chr11:86065267-86065268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Obesity	20622171	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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86014400-86066600	Weak transcription	HSMMtube	muscle
2	chr11:86014600-86066400	Weak transcription	Fetal Kidney	kidney
3	chr11:86033400-86066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:86035400-86066600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:86047800-86067800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:86048400-86070200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:86049400-86067800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:86049600-86065200	Weak transcription	Fetal Brain Female	brain
9	chr11:86049600-86066400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:86049600-86066800	Weak transcription	HUVEC	blood vessel
11	chr11:86049600-86067600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:86049800-86068000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:86050000-86072000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:86050600-86068200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:86058000-86067600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:86058200-86071200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:86058400-86067600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:86058600-86069800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86058600-86070000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:86059800-86066400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:86061000-86066800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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