Variant report

Variant	esv3378151
Chromosome Location	chr11:63879926-63882924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63871768..63873889-chr11:63882360..63884841,2	K562	blood:
2	chr11:63871394..63875273-chr11:63876686..63880197,5	K562	blood:
3	chr11:63882915..63884582-chr11:63898261..63900223,2	MCF-7	breast:
4	chr11:63753024..63754792-chr11:63877505..63880384,2	MCF-7	breast:
5	chr11:63845669..63847222-chr11:63878087..63880770,2	MCF-7	breast:
6	chr11:63751447..63755451-chr11:63882751..63885607,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167770	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557242309	chr11:63879936-63879937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs367592056	chr11:63879940-63879941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538691702	chr11:63880056-63880057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545418008	chr11:63880068-63880069	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550440017	chr11:63880077-63880078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558889546	chr11:63880078-63880079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572736933	chr11:63880080-63880081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541937648	chr11:63880081-63880082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561628773	chr11:63880101-63880102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555020043	chr11:63880102-63880103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186182584	chr11:63880104-63880105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550752171	chr11:63880108-63880109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs367857923	chr11:63880144-63880145	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564372097	chr11:63880172-63880173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552519294	chr11:63880209-63880210	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190523593	chr11:63880233-63880234	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372324511	chr11:63880346-63880347	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552617390	chr11:63880356-63880357	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566098856	chr11:63880396-63880397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs663889	chr11:63880397-63880398	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs181662889	chr11:63880416-63880417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186858592	chr11:63880419-63880420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537251006	chr11:63880441-63880442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557105631	chr11:63880478-63880479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570825935	chr11:63880483-63880484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114493608	chr11:63880500-63880501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553231535	chr11:63880501-63880502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572845337	chr11:63880528-63880529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368277850	chr11:63880540-63880541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555446865	chr11:63880555-63880556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540549170	chr11:63880569-63880570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575199604	chr11:63880605-63880606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544438504	chr11:63880721-63880722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs693984	chr11:63880725-63880726	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs533144302	chr11:63880807-63880808	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs540560263	chr11:63880812-63880813	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs191233742	chr11:63880820-63880821	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528526786	chr11:63880843-63880844	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs372778940	chr11:63880884-63880885	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377336811	chr11:63880885-63880886	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs370672840	chr11:63880889-63880890	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201324445	chr11:63880890-63880891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529832646	chr11:63880893-63880894	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs548042849	chr11:63880950-63880951	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112667163	chr11:63880970-63880971	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs367827221	chr11:63880982-63880983	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs548242346	chr11:63880986-63880987	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs568562217	chr11:63880999-63881000	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4053471	chr11:63881012-63881013	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550646798	chr11:63881064-63881065	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63866400-63887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:63867000-63882800	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:63870000-63884400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:63871200-63884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:63871400-63881000	Weak transcription	Gastric	stomach
6	chr11:63872200-63882400	Weak transcription	Fetal Brain Female	brain
7	chr11:63872800-63883600	Weak transcription	Pancreas	Pancrea
8	chr11:63873400-63886800	Weak transcription	Colonic Mucosa	Colon
9	chr11:63873800-63884200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:63874000-63884200	Weak transcription	Brain Angular Gyrus	brain
11	chr11:63874200-63880000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:63874200-63881200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:63874200-63882800	Weak transcription	Fetal Stomach	stomach
14	chr11:63874200-63883400	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:63874200-63883800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:63874200-63883800	Weak transcription	Brain Substantia Nigra	brain
17	chr11:63875400-63880800	Weak transcription	Hela-S3	cervix
18	chr11:63875400-63883000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:63875400-63896200	Weak transcription	Spleen	Spleen
20	chr11:63875600-63886800	Weak transcription	HSMMtube	muscle
21	chr11:63876200-63884200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:63877200-63881200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:63877400-63882800	Weak transcription	Fetal Heart	heart
24	chr11:63877400-63883800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:63878200-63880800	Weak transcription	Lung	lung
26	chr11:63878400-63880600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:63878800-63880200	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:63878800-63880400	Weak transcription	Aorta	Aorta
29	chr11:63878800-63882200	Weak transcription	Brain Germinal Matrix	brain
30	chr11:63878800-63882400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:63879200-63888400	Weak transcription	Left Ventricle	heart
32	chr11:63879400-63880400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:63879400-63881400	Weak transcription	Esophagus	oesophagus
34	chr11:63879400-63882800	Weak transcription	Fetal Intestine Small	intestine
35	chr11:63879400-63884400	Weak transcription	Right Ventricle	heart
36	chr11:63879600-63885800	Weak transcription	HepG2	liver
37	chr11:63879600-63886200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:63879600-63890200	Weak transcription	Liver	Liver
39	chr11:63879800-63891600	Weak transcription	Primary T cells from cord blood	blood
40	chr11:63880200-63880400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:63880200-63883000	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:63880400-63882200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:63880400-63882400	Strong transcription	Aorta	Aorta
44	chr11:63880600-63884200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:63880800-63881400	ZNF genes & repeats	Hela-S3	cervix
46	chr11:63880800-63882800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:63881000-63882200	ZNF genes & repeats	Fetal Kidney	kidney
48	chr11:63881000-63882200	Genic enhancers	Gastric	stomach
49	chr11:63881200-63882200	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:63881200-63883000	Strong transcription	Stomach Smooth Muscle	stomach

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