Variant report

Variant	nsv528623
Chromosome Location	chr11:76161389-76168219
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76152961..76155876-chr11:76158205..76163681,6	MCF-7	breast:
2	chr11:76165538..76167184-chr11:76168233..76170984,2	K562	blood:
3	chr11:76159376..76162280-chr11:76162803..76165998,5	K562	blood:
4	chr11:76159669..76162369-chr11:76163476..76167380,4	K562	blood:
5	chr11:76152066..76158313-chr11:76167740..76173788,10	K562	blood:
6	chr11:76159669..76162369-chr11:76163476..76167380,4	K562	blood:
7	chr11:76164027..76165933-chr11:76175646..76177507,2	MCF-7	breast:
8	chr11:76157054..76159059-chr11:76166172..76168326,2	K562	blood:
9	chr11:76159376..76162280-chr11:76162803..76165998,5	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	C11orf30	hsa-miR-26b-5p	chr11:76164698-76164718

Variant related genes	Relation type
ENSG00000158636	chromatin interactions
ENSG00000255135	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7123361	chr11:76161389-76161390	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377431822	chr11:76161393-76161394	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79714626	chr11:76161547-76161548	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539283663	chr11:76161562-76161563	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553481759	chr11:76161570-76161571	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571171479	chr11:76161578-76161579	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367930959	chr11:76161662-76161663	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540118376	chr11:76161670-76161671	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189984257	chr11:76161686-76161687	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113881660	chr11:76161716-76161717	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117732669	chr11:76161722-76161723	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542411667	chr11:76161728-76161729	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555831131	chr11:76161735-76161736	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200683792	chr11:76161761-76161762	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7123914	chr11:76161827-76161828	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34212263	chr11:76161838-76161839	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149342291	chr11:76161853-76161854	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs59339243	chr11:76161855-76161856	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs13377353	chr11:76161858-76161859	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541454232	chr11:76161910-76161911	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536454373	chr11:76161976-76161977	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200063003	chr11:76161991-76161992	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs117324281	chr11:76162021-76162022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375900072	chr11:76162042-76162043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554782919	chr11:76162061-76162062	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199675215	chr11:76162104-76162105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532465031	chr11:76162176-76162177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545707286	chr11:76162274-76162275	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562415211	chr11:76162293-76162294	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181897862	chr11:76162316-76162317	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138771870	chr11:76162453-76162454	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149127177	chr11:76162466-76162467	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143238406	chr11:76162476-76162477	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186292558	chr11:76162488-76162489	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576124775	chr11:76162546-76162547	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191072945	chr11:76162567-76162568	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570340641	chr11:76162587-76162588	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35129853	chr11:76162599-76162600	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183303704	chr11:76162626-76162627	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148323527	chr11:76162643-76162644	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555201694	chr11:76162665-76162666	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141488472	chr11:76162681-76162682	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536063910	chr11:76162694-76162695	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188750302	chr11:76162712-76162713	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572547696	chr11:76162791-76162792	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534785537	chr11:76162795-76162796	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558165996	chr11:76162812-76162813	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147506236	chr11:76162842-76162843	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372756267	chr11:76162848-76162849	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529427104	chr11:76162895-76162896	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76157000-76166400	Weak transcription	Small Intestine	intestine
2	chr11:76157200-76161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:76157200-76161600	Weak transcription	Lung	lung
4	chr11:76157200-76166400	Weak transcription	Ovary	ovary
5	chr11:76157200-76168400	Weak transcription	Psoas Muscle	Psoas
6	chr11:76157200-76183400	Weak transcription	Gastric	stomach
7	chr11:76157200-76183600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:76157200-76183600	Weak transcription	Spleen	Spleen
9	chr11:76157200-76183800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:76157200-76190200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:76157200-76191200	Weak transcription	Stomach Mucosa	stomach
12	chr11:76157400-76161400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:76157400-76161400	Weak transcription	Thymus	Thymus
14	chr11:76157400-76161600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:76157400-76164000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:76157400-76164000	Weak transcription	NHDF-Ad	bronchial
17	chr11:76157400-76164200	Weak transcription	Fetal Kidney	kidney
18	chr11:76157400-76165800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:76157400-76169800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:76157400-76171000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:76157400-76174800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:76157400-76179800	Weak transcription	HSMMtube	muscle
23	chr11:76157400-76183400	Weak transcription	Right Ventricle	heart
24	chr11:76157400-76183600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:76157400-76183600	Weak transcription	Esophagus	oesophagus
26	chr11:76157400-76190200	Weak transcription	Colonic Mucosa	Colon
27	chr11:76157600-76173600	Weak transcription	Brain Substantia Nigra	brain
28	chr11:76157800-76161400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:76157800-76161600	Weak transcription	Fetal Intestine Small	intestine
30	chr11:76157800-76161600	Weak transcription	Fetal Stomach	stomach
31	chr11:76157800-76163000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:76157800-76166200	Weak transcription	NHLF	lung
33	chr11:76157800-76166400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:76157800-76169200	Weak transcription	Brain Anterior Caudate	brain
35	chr11:76157800-76174800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:76158000-76161400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:76158000-76161600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:76158000-76162800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:76158000-76163000	Weak transcription	Primary T cells from cord blood	blood
40	chr11:76158000-76163000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:76158000-76163000	Weak transcription	A549	lung
42	chr11:76158000-76163200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:76158000-76163400	Strong transcription	Fetal Intestine Large	intestine
44	chr11:76158000-76163400	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:76158000-76164000	Weak transcription	HUVEC	blood vessel
46	chr11:76158000-76165400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr11:76158000-76167200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:76158000-76168200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:76158000-76170000	Weak transcription	Fetal Heart	heart
50	chr11:76158000-76171400	Strong transcription	Liver	Liver

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