Variant report

Variant	esv3470785
Chromosome Location	chr11:65884003-65884794
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65882300..65885934-chr11:65892908..65896262,3	K562	blood:
2	chr11:65879652..65882394-chr11:65882531..65887079,5	K562	blood:
3	chr11:65836711..65839156-chr11:65879952..65887031,7	MCF-7	breast:
4	chr11:65847681..65850551-chr11:65884444..65887331,2	MCF-7	breast:
5	chr11:65836821..65841267-chr11:65881295..65888359,12	MCF-7	breast:
6	chr11:65879009..65884313-chr11:65890112..65896035,10	MCF-7	breast:
7	chr11:65873298..65876282-chr11:65883315..65885397,2	K562	blood:
8	chr11:65882960..65886510-chr11:65888191..65894408,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175115	chromatin interactions
ENSG00000255038	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372235971	chr11:65884024-65884025	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs151117116	chr11:65884048-65884049	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs72934655	chr11:65884095-65884096	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532306080	chr11:65884187-65884188	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs117229947	chr11:65884220-65884221	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559582831	chr11:65884251-65884252	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371740764	chr11:65884275-65884276	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528116862	chr11:65884292-65884293	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs115431524	chr11:65884342-65884343	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs373123044	chr11:65884366-65884367	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200895065	chr11:65884367-65884368	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs398016456	chr11:65884377-65884378	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs75483027	chr11:65884406-65884407	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181212103	chr11:65884489-65884490	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550229550	chr11:65884529-65884530	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570179299	chr11:65884556-65884557	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539204714	chr11:65884658-65884659	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374689353	chr11:65884665-65884666	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368069415	chr11:65884670-65884671	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs12049852	chr11:65884702-65884703	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527962	chr11:65884718-65884719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs574190271	chr11:65884758-65884759	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs117320380	chr11:65884765-65884766	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 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
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	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:65868800-65886200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:65875000-65887200	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:65876800-65888400	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:65878200-65885600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:65879200-65886600	Enhancers	Fetal Thymus	thymus
7	chr11:65879400-65884400	Enhancers	Small Intestine	intestine
8	chr11:65879400-65889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:65879600-65884800	Enhancers	Stomach Mucosa	stomach
10	chr11:65880000-65884600	Weak transcription	Placenta	Placenta
11	chr11:65880000-65885800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:65880000-65885800	Weak transcription	Right Ventricle	heart
13	chr11:65880000-65887000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:65880200-65885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:65880200-65885800	Weak transcription	Esophagus	oesophagus
16	chr11:65880400-65886400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:65880400-65886400	Enhancers	Hela-S3	cervix
18	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
19	chr11:65880600-65886400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:65880600-65894400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:65881000-65884800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:65881000-65886400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:65881000-65886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:65881000-65886800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:65881000-65892000	Weak transcription	Brain Anterior Caudate	brain
26	chr11:65881000-65894600	Weak transcription	Gastric	stomach
27	chr11:65881200-65886200	Weak transcription	NHLF	lung
28	chr11:65881200-65886400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:65881200-65886400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:65881400-65888600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:65881600-65885600	Weak transcription	NHDF-Ad	bronchial
32	chr11:65881600-65885800	Weak transcription	HMEC	breast
33	chr11:65881600-65886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:65881600-65886400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:65881600-65886400	Weak transcription	Fetal Brain Male	brain
36	chr11:65881600-65893800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:65882000-65884800	Enhancers	Fetal Heart	heart
38	chr11:65882000-65885400	Weak transcription	NHEK	skin
39	chr11:65882200-65884400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:65882200-65884600	Enhancers	Fetal Intestine Small	intestine
41	chr11:65882400-65884200	Enhancers	Fetal Lung	lung
42	chr11:65882400-65884400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:65882400-65884600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:65882400-65884800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:65882400-65885000	Enhancers	Thymus	Thymus
46	chr11:65882800-65884200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:65882800-65884200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:65882800-65884200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:65882800-65884200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr11:65882800-65884200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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