Variant report

Variant	esv3328967
Chromosome Location	chr11:67000394-67001806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66988845..66990484-chr11:67000195..67002705,2	K562	blood:
2	chr11:67001329..67003402-chr11:67014947..67017604,2	MCF-7	breast:
3	chr11:66995727..67000656-chr11:67007409..67009017,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173120	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549714685	chr11:67000400-67000401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192598717	chr11:67000501-67000502	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117354215	chr11:67000517-67000518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11227745	chr11:67000616-67000617	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367710437	chr11:67000641-67000642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112302981	chr11:67000750-67000751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184842339	chr11:67000753-67000754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369453382	chr11:67000780-67000781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189124132	chr11:67000783-67000784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373287668	chr11:67000784-67000785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377003771	chr11:67000795-67000796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370324817	chr11:67000809-67000810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373063676	chr11:67000816-67000817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369465688	chr11:67000833-67000834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34329359	chr11:67000836-67000837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181533257	chr11:67000844-67000845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184908436	chr11:67000853-67000854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376048712	chr11:67000862-67000863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555690374	chr11:67000863-67000864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574239260	chr11:67000864-67000865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541381131	chr11:67000865-67000866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370405759	chr11:67000871-67000872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374330308	chr11:67000873-67000874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368269222	chr11:67000890-67000891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553655910	chr11:67000902-67000903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12789637	chr11:67000950-67000951	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7107527	chr11:67000970-67000971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12278847	chr11:67000971-67000972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12278848	chr11:67000973-67000974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145959444	chr11:67000979-67000980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142296315	chr11:67000980-67000981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74410043	chr11:67000983-67000984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79426721	chr11:67000984-67000985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80026835	chr11:67000986-67000987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77874215	chr11:67000990-67000991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76806248	chr11:67000992-67000993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74369977	chr11:67000993-67000994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79204368	chr11:67000994-67000995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79119009	chr11:67000996-67000997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7107542	chr11:67001003-67001004	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12292083	chr11:67001015-67001016	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12278855	chr11:67001016-67001017	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12278858	chr11:67001035-67001036	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12292088	chr11:67001038-67001039	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537162302	chr11:67001071-67001072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189421984	chr11:67001079-67001080	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148508658	chr11:67001123-67001124	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201948496	chr11:67001125-67001126	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577091771	chr11:67001138-67001139	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375486785	chr11:67001212-67001213	Weak transcription Enhancers Strong transcription 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
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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Schizophrenia	21346763	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
2	chr11:66956400-67005000	Weak transcription	Fetal Heart	heart
3	chr11:66964600-67002400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:66965200-67006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:66972800-67002600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr11:66973000-67005400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:66980400-67002200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:66980800-67005600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:66981000-67003800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:66981600-67005200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:66981800-67006400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:66982000-67005800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:66982400-67003800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:66982800-67002600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:66982800-67002600	Strong transcription	Adipose Nuclei	Adipose
16	chr11:66987000-67006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:66990200-67002200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:66990400-67002200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:66990400-67003400	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:66990400-67004400	Strong transcription	Fetal Stomach	stomach
21	chr11:66990400-67005200	Strong transcription	Fetal Intestine Small	intestine
22	chr11:66990800-67000400	Strong transcription	Placenta	Placenta
23	chr11:66990800-67002400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:66990800-67005400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:66991000-67000600	Strong transcription	Thymus	Thymus
26	chr11:66991000-67002400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:66991000-67002400	Strong transcription	Fetal Intestine Large	intestine
28	chr11:66991200-67001200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:66994200-67002000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:66994400-67001800	Strong transcription	Osteobl	bone
31	chr11:66994400-67002400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:66994600-67001000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:66994600-67001600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:66994600-67002000	Strong transcription	Liver	Liver
35	chr11:66994600-67002200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:66994600-67002200	Strong transcription	Brain Substantia Nigra	brain
37	chr11:66994600-67002400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:66994600-67002400	Strong transcription	Dnd41	blood
39	chr11:66994800-67001400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:66994800-67002200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:66994800-67002400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:66995200-67001200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr11:66995200-67002000	Strong transcription	NH-A	brain
44	chr11:66995400-67002000	Strong transcription	Colon Smooth Muscle	Colon
45	chr11:66995600-67000600	Strong transcription	NHDF-Ad	bronchial
46	chr11:66995800-67006400	Weak transcription	Fetal Brain Male	brain
47	chr11:66996200-67001200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:66996400-67006400	Weak transcription	Aorta	Aorta
49	chr11:66996400-67006400	Weak transcription	Ovary	ovary
50	chr11:66996600-67006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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