Variant report

Variant	esv14073
Chromosome Location	chr11:65738152-65739062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65737683..65739505-chr11:65768253..65770235,2	MCF-7	breast:
2	chr11:65737150..65739313-chr11:65741413..65743660,2	MCF-7	breast:
3	chr11:65736999..65738996-chr11:65769148..65771256,2	MCF-7	breast:
4	chr11:65736718..65739308-chr11:66048682..66051569,2	K562	blood:
5	chr11:65734343..65736232-chr11:65738281..65740825,2	MCF-7	breast:
6	chr11:65736088..65739502-chr11:65743802..65746702,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175334	chromatin interactions
ENSG00000175467	chromatin interactions
ENSG00000175376	chromatin interactions
ENSG00000174871	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375799235	chr11:65738162-65738163	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs34924971	chr11:65738175-65738176	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs565925763	chr11:65738177-65738178	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs548186561	chr11:65738178-65738179	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs72928826	chr11:65738199-65738200	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2845576	chr11:65738248-65738249	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs554817787	chr11:65738262-65738263	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs76705937	chr11:65738269-65738270	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs201422595	chr11:65738289-65738290	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs2845575	chr11:65738295-65738296	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs546197475	chr11:65738318-65738319	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs67201447	chr11:65738319-65738320	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs59143048	chr11:65738322-65738323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs58609655	chr11:65738345-65738346	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs57209570	chr11:65738352-65738353	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs373084839	chr11:65738359-65738360	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs553959418	chr11:65738366-65738367	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs61893935	chr11:65738377-65738378	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201326498	chr11:65738378-65738379	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs199929714	chr11:65738408-65738409	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs574808204	chr11:65738428-65738429	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs74188201	chr11:65738483-65738484	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs201276041	chr11:65738500-65738501	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs75665959	chr11:65738515-65738516	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs180877613	chr11:65738527-65738528	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs77806697	chr11:65738528-65738529	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs143605991	chr11:65738529-65738530	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs55992629	chr11:65738566-65738567	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs55723810	chr11:65738573-65738574	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs371357854	chr11:65738606-65738607	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs375257855	chr11:65738619-65738620	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs74994319	chr11:65738648-65738649	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs56365031	chr11:65738675-65738676	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs71462355	chr11:65738737-65738738	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs202007981	chr11:65738771-65738772	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs375963110	chr11:65738894-65738895	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs71462356	chr11:65738895-65738896	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs78473730	chr11:65738910-65738911	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs72062222	chr11:65738930-65738931	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs71455797	chr11:65738955-65738956	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs576156683	chr11:65738984-65738985	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs2847723	chr11:65738991-65738992	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs569681210	chr11:65739001-65739002	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs541854013	chr11:65739042-65739043	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs368652945	chr11:65739045-65739046	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs61893936	chr11:65739053-65739054	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65729800-65746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65730600-65767800	Weak transcription	Right Atrium	heart
3	chr11:65730800-65741600	Weak transcription	Fetal Heart	heart
4	chr11:65731000-65744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:65731200-65738200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:65731200-65738200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:65731200-65747400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:65731200-65747800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:65731200-65748600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:65731200-65749600	Strong transcription	Fetal Intestine Small	intestine
11	chr11:65731400-65738200	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr11:65731400-65738200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:65731400-65738200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:65731400-65738200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:65731400-65738200	Strong transcription	Colonic Mucosa	Colon
16	chr11:65731400-65738200	Strong transcription	Fetal Lung	lung
17	chr11:65731400-65738200	Strong transcription	NHLF	lung
18	chr11:65731400-65738400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:65731400-65738400	Strong transcription	Osteobl	bone
20	chr11:65731400-65741600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:65731400-65747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:65731400-65747600	Strong transcription	Fetal Thymus	thymus
23	chr11:65731400-65748000	Strong transcription	Thymus	Thymus
24	chr11:65731600-65738200	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr11:65731600-65738200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:65731600-65738200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:65731600-65738200	Strong transcription	Fetal Intestine Large	intestine
28	chr11:65731600-65738200	Strong transcription	Pancreas	Pancrea
29	chr11:65731600-65738200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:65731600-65738400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:65731600-65738400	Strong transcription	Adipose Nuclei	Adipose
32	chr11:65731600-65738400	Strong transcription	Right Ventricle	heart
33	chr11:65731600-65738600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:65731600-65740000	Strong transcription	Ovary	ovary
35	chr11:65731600-65740800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:65731600-65741400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:65731600-65741400	Strong transcription	Left Ventricle	heart
38	chr11:65731600-65741600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:65731600-65741600	Strong transcription	Liver	Liver
40	chr11:65731600-65742400	Strong transcription	Primary T cells from cord blood	blood
41	chr11:65731600-65747400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:65731600-65747800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:65731800-65738200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:65731800-65738200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:65731800-65738200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:65731800-65738200	Strong transcription	Brain Angular Gyrus	brain
47	chr11:65731800-65738200	Strong transcription	Brain Anterior Caudate	brain
48	chr11:65731800-65738400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:65731800-65740800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr11:65731800-65741400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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