Variant report

Variant	esv3433546
Chromosome Location	chr11:66899910-66900665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66894856..66897785-chr11:66899004..66901222,2	K562	blood:
2	chr11:66896524..66901223-chr11:66901384..66904536,5	K562	blood:
3	chr11:66899050..66903329-chr11:66906859..66910351,4	MCF-7	breast:
4	chr11:66884732..66891772-chr11:66894798..66900811,8	K562	blood:

Variant related genes	Relation type
ENSG00000173120	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373397338	chr11:66899911-66899912	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562086161	chr11:66899966-66899967	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs61395951	chr11:66900045-66900046	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547810480	chr11:66900128-66900129	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556537900	chr11:66900131-66900132	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79429303	chr11:66900133-66900134	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554043325	chr11:66900168-66900169	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527400391	chr11:66900170-66900171	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561608671	chr11:66900195-66900196	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142748831	chr11:66900201-66900202	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570630743	chr11:66900206-66900207	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539640552	chr11:66900223-66900224	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182083531	chr11:66900244-66900245	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550044140	chr11:66900261-66900262	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186369027	chr11:66900322-66900323	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146969720	chr11:66900326-66900327	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535831878	chr11:66900365-66900366	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs137984599	chr11:66900402-66900403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149604387	chr11:66900435-66900436	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374147942	chr11:66900443-66900444	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539924308	chr11:66900462-66900463	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189217759	chr11:66900470-66900471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576568785	chr11:66900517-66900518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543705199	chr11:66900536-66900537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367770448	chr11:66900538-66900539	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555619081	chr11:66900551-66900552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574030024	chr11:66900567-66900568	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554021408	chr11:66900604-66900605	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541390329	chr11:66900647-66900648	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181501132	chr11:66900656-66900657	Weak transcription Strong 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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
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
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Schizophrenia	21346763	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66888600-66922600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:66888800-66902200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66888800-66907400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:66889000-66900000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:66889000-66901800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:66889000-66920400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:66889200-66901600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:66889800-66900000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:66889800-66901400	Weak transcription	A549	lung
10	chr11:66889800-66902000	Weak transcription	HUVEC	blood vessel
11	chr11:66889800-66902200	Weak transcription	Aorta	Aorta
12	chr11:66889800-66902400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:66889800-66903800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:66889800-66923400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:66890000-66901400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:66890000-66901600	Weak transcription	HSMMtube	muscle
17	chr11:66890000-66908400	Strong transcription	Fetal Stomach	stomach
18	chr11:66890000-66912800	Weak transcription	Psoas Muscle	Psoas
19	chr11:66890200-66920000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:66890400-66909400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr11:66890800-66900200	Weak transcription	Fetal Brain Male	brain
22	chr11:66890800-66912600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:66890800-66923000	Strong transcription	Fetal Thymus	thymus
24	chr11:66891200-66900200	Weak transcription	Brain Angular Gyrus	brain
25	chr11:66891200-66901400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:66891400-66900000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:66891400-66901200	Weak transcription	Pancreas	Pancrea
28	chr11:66891400-66903200	Weak transcription	Fetal Heart	heart
29	chr11:66891400-66908800	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:66892200-66908600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:66892400-66904400	Strong transcription	Thymus	Thymus
32	chr11:66892600-66914000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:66892800-66911800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:66892800-66912600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:66892800-66913000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:66893200-66923000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:66893200-66923400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:66893400-66906400	Strong transcription	Osteobl	bone
39	chr11:66893800-66907400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:66894000-66909000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:66894200-66911400	Strong transcription	Adipose Nuclei	Adipose
42	chr11:66894400-66922400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:66894600-66909800	Strong transcription	GM12878-XiMat	blood
44	chr11:66894800-66900200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:66895000-66903600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:66895000-66909600	Strong transcription	Dnd41	blood
47	chr11:66895200-66915800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:66895600-66911000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:66895600-66922000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:66895800-66904400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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