Variant report

Variant	nsv898067
Chromosome Location	chr11:86892865-86935783
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86895352..86897026-chr11:86899805..86901720,2	K562	blood:
2	chr11:86900182..86903492-chr11:86905711..86910083,4	K562	blood:
3	chr11:86921997..86925633-chr11:86926619..86929927,5	K562	blood:
4	chr11:86924206..86926245-chr11:86930378..86932580,2	K562	blood:
5	chr11:86921997..86925633-chr11:86926619..86929927,5	K562	blood:
6	chr11:86920351..86922677-chr11:86924131..86926585,2	K562	blood:
7	chr11:86921997..86924234-chr11:86927310..86928877,2	K562	blood:
8	chr11:86900182..86903492-chr11:86905711..86910083,4	K562	blood:
9	chr11:86921997..86924234-chr11:86927310..86928877,2	K562	blood:
10	chr11:86899712..86901382-chr11:86903626..86906084,2	K562	blood:
11	chr11:86895352..86897026-chr11:86899805..86901720,2	K562	blood:
12	chr11:86924206..86926245-chr11:86930378..86932580,2	K562	blood:
13	chr11:86920351..86922677-chr11:86924131..86926585,2	K562	blood:
14	chr11:86899712..86901382-chr11:86903626..86906084,2	K562	blood:
15	chr11:86889371..86892096-chr11:86895507..86898091,3	K562	blood:

No data

Extended variants
information (count: 1702 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1702 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560392	chr11:86892865-86892866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35246244	chr11:86892891-86892892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114075553	chr11:86892939-86892940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117204458	chr11:86892950-86892951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563417677	chr11:86892957-86892958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537991762	chr11:86892997-86892998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188370098	chr11:86893029-86893030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564770219	chr11:86893044-86893045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527560147	chr11:86893063-86893064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530662565	chr11:86893158-86893159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192994802	chr11:86893168-86893169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561181240	chr11:86893171-86893172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143211182	chr11:86893225-86893226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183923218	chr11:86893250-86893251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188265074	chr11:86893302-86893303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191341122	chr11:86893303-86893304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532536584	chr11:86893315-86893316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148191975	chr11:86893320-86893321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565970624	chr11:86893350-86893351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183484407	chr11:86893351-86893352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7103219	chr11:86893407-86893408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190645249	chr11:86893430-86893431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568436570	chr11:86893444-86893445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537202335	chr11:86893483-86893484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557144159	chr11:86893493-86893494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76780974	chr11:86893504-86893505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560953533	chr11:86893512-86893513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368838332	chr11:86893543-86893544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564230832	chr11:86893547-86893548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75155548	chr11:86893563-86893564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571911783	chr11:86893565-86893566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17149794	chr11:86893606-86893607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs477156	chr11:86893638-86893639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs478368	chr11:86893678-86893679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182086835	chr11:86893683-86893684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141127902	chr11:86893727-86893728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532618768	chr11:86893739-86893740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552426737	chr11:86893757-86893758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115599888	chr11:86893845-86893846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528442098	chr11:86893867-86893868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187128870	chr11:86893885-86893886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568374796	chr11:86893933-86893934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537390923	chr11:86894001-86894002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528878989	chr11:86894019-86894020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs502191	chr11:86894037-86894038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs150719120	chr11:86894041-86894042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376779076	chr11:86894053-86894054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540037668	chr11:86894099-86894100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs640146	chr11:86894108-86894109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs137920299	chr11:86894116-86894117	Weak transcription	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:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86882000-86928000	Weak transcription	Left Ventricle	heart
2	chr11:86884600-86896600	Weak transcription	Fetal Kidney	kidney
3	chr11:86884600-86899200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:86884800-86901200	Weak transcription	K562	blood
5	chr11:86885000-86893200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:86885000-86902200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:86886200-86894800	Weak transcription	Fetal Heart	heart
8	chr11:86886400-86896600	Weak transcription	Adipose Nuclei	Adipose
9	chr11:86887400-86899600	Weak transcription	NHDF-Ad	bronchial
10	chr11:86887600-86893800	Weak transcription	NHLF	lung
11	chr11:86887600-86909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:86889400-86899600	Weak transcription	Primary T cells from cord blood	blood
13	chr11:86889600-86899200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:86889800-86893000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:86889800-86893000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:86889800-86893400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:86889800-86897400	Weak transcription	Fetal Intestine Small	intestine
18	chr11:86889800-86897800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:86889800-86898400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:86889800-86905200	Weak transcription	Fetal Lung	lung
21	chr11:86890200-86919000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:86891000-86897400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:86891000-86914200	Weak transcription	HepG2	liver
24	chr11:86891800-86893000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:86891800-86929400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:86892600-86898400	Weak transcription	Brain Substantia Nigra	brain
27	chr11:86892600-86898600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:86892800-86915000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:86893400-86897600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:86896600-86896800	Enhancers	Fetal Kidney	kidney
31	chr11:86896600-86897200	Enhancers	Adipose Nuclei	Adipose
32	chr11:86897000-86897200	Enhancers	Esophagus	oesophagus
33	chr11:86897200-86898200	Weak transcription	Adipose Nuclei	Adipose
34	chr11:86897200-86899000	Weak transcription	Esophagus	oesophagus
35	chr11:86898200-86898600	Enhancers	Adipose Nuclei	Adipose
36	chr11:86898400-86899000	Enhancers	Brain Substantia Nigra	brain
37	chr11:86898400-86900000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:86898600-86898800	Enhancers	Rectal Smooth Muscle	rectum
39	chr11:86898600-86899400	Enhancers	Brain Hippocampus Middle	brain
40	chr11:86900000-86914200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:86901200-86901600	Enhancers	K562	blood
42	chr11:86901600-86902200	Flanking Active TSS	K562	blood
43	chr11:86902200-86902600	Enhancers	K562	blood
44	chr11:86902600-86902800	Flanking Active TSS	K562	blood
45	chr11:86902800-86903000	Enhancers	K562	blood
46	chr11:86903000-86905000	Weak transcription	K562	blood
47	chr11:86905000-86905400	Flanking Active TSS	K562	blood
48	chr11:86905200-86905600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:86905200-86906000	Enhancers	Fetal Lung	lung
50	chr11:86905400-86905600	Active TSS	K562	blood

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