Variant report

Variant	nsv516556
Chromosome Location	chr11:75071783-75080920
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75061282..75063321-chr11:75080294..75083043,2	K562	blood:
2	chr11:75073760..75076326-chr11:75079019..75081067,2	K562	blood:
3	chr11:75044535..75045443-chr11:75077986..75078514,2	MCF-7	breast:
4	chr11:75071158..75073048-chr11:75082961..75084761,2	MCF-7	breast:
5	chr11:74992382..74994631-chr11:75070974..75072526,2	K562	blood:
6	chr11:75067548..75069783-chr11:75074663..75077055,2	MCF-7	breast:
7	chr11:75061482..75063313-chr11:75077866..75079775,4	MCF-7	breast:
8	chr11:75056296..75059058-chr11:75079339..75081796,2	MCF-7	breast:
9	chr11:75059438..75065729-chr11:75070757..75077420,9	MCF-7	breast:
10	chr11:75074475..75076955-chr11:75084896..75086435,2	MCF-7	breast:
11	chr11:75077164..75078876-chr11:75082992..75084956,2	MCF-7	breast:
12	chr11:75076999..75080604-chr11:75081592..75085575,3	MCF-7	breast:
13	chr11:75073760..75076326-chr11:75079019..75081067,2	K562	blood:
14	chr11:75075892..75077549-chr18:28889516..28891593,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137486	chromatin interactions

Extended variants
information (count: 380 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs582477	chr11:75071783-75071784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs518115	chr11:75071801-75071802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552748939	chr11:75071804-75071805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570911179	chr11:75071858-75071859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs193112322	chr11:75071883-75071884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149349724	chr11:75071895-75071896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576213389	chr11:75071906-75071907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535488481	chr11:75071922-75071923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144696673	chr11:75071923-75071924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572640032	chr11:75071924-75071925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541250159	chr11:75071931-75071932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558060662	chr11:75071940-75071941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs509181	chr11:75071947-75071948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184365725	chr11:75071948-75071949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs519947	chr11:75072002-75072003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529267216	chr11:75072059-75072060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142882158	chr11:75072061-75072062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559575475	chr11:75072076-75072077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189264188	chr11:75072110-75072111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547585740	chr11:75072157-75072158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570773894	chr11:75072170-75072171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140430743	chr11:75072202-75072203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533221297	chr11:75072243-75072244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs506412	chr11:75072263-75072264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569716747	chr11:75072313-75072314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368455908	chr11:75072337-75072338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535096967	chr11:75072349-75072350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539514683	chr11:75072401-75072402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371044524	chr11:75072445-75072446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555474600	chr11:75072469-75072470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147286203	chr11:75072530-75072531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535246274	chr11:75072531-75072532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557898680	chr11:75072583-75072584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10899087	chr11:75072687-75072688	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs80320520	chr11:75072699-75072700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557221723	chr11:75072745-75072746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574011271	chr11:75072795-75072796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144863473	chr11:75072825-75072826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559816012	chr11:75072841-75072842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528542281	chr11:75072878-75072879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181255384	chr11:75072904-75072905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185844229	chr11:75072930-75072931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533160293	chr11:75073016-75073017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs508798	chr11:75073056-75073057	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7929742	chr11:75073088-75073089	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528911857	chr11:75073145-75073146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551926086	chr11:75073306-75073307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189086219	chr11:75073352-75073353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112345747	chr11:75073402-75073403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558761617	chr11:75073431-75073432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75063600-75076800	Weak transcription	Hela-S3	cervix
2	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:75064600-75071800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:75066600-75076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:75067200-75076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:75068800-75080800	Weak transcription	Spleen	Spleen
7	chr11:75069000-75071800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:75071600-75072200	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:75071800-75072000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr11:75071800-75072200	Enhancers	Primary B cells from cord blood	blood
11	chr11:75071800-75072200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr11:75071800-75072400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:75072200-75075800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:75072200-75076800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:75072200-75077000	Weak transcription	Primary B cells from cord blood	blood
16	chr11:75072400-75076000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:75075000-75075200	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:75075200-75076000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:75075800-75076000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:75075800-75076800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr11:75076000-75076200	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:75076000-75078800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:75076000-75080400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:75076000-75080600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:75076000-75080800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:75076200-75077000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:75076200-75077600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:75076400-75079400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:75076800-75077400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:75076800-75077400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:75076800-75077400	Enhancers	A549	lung
32	chr11:75076800-75077400	Enhancers	Osteobl	bone
33	chr11:75076800-75077600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:75076800-75077600	Enhancers	Primary B cells from peripheral blood	blood
35	chr11:75076800-75077600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr11:75076800-75078400	Enhancers	Hela-S3	cervix
37	chr11:75077000-75077200	Enhancers	Fetal Lung	lung
38	chr11:75077000-75077400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:75077000-75077400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:75077000-75077400	Enhancers	NHDF-Ad	bronchial
41	chr11:75077000-75077600	Enhancers	Primary hematopoietic stem cells	blood
42	chr11:75077000-75078000	Enhancers	Primary B cells from cord blood	blood
43	chr11:75077200-75077400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr11:75077200-75077600	Enhancers	Adipose Nuclei	Adipose
45	chr11:75077200-75078200	Enhancers	K562	blood
46	chr11:75077200-75079200	Enhancers	Placenta	Placenta
47	chr11:75077200-75083000	Weak transcription	Fetal Lung	lung
48	chr11:75077400-75080800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:75077600-75078000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:75077600-75080600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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