Variant report

Variant	esv3332812
Chromosome Location	chr11:64800207-64800645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64800138..64802225-chr11:64803720..64806117,3	K562	blood:
2	chr11:64793822..64797122-chr11:64800451..64804547,4	MCF-7	breast:
3	chr11:64781097..64784077-chr11:64798309..64801053,4	MCF-7	breast:
4	chr11:64794902..64797457-chr11:64797903..64800553,2	MCF-7	breast:
5	chr11:64799194..64801472-chr11:64804094..64806308,2	MCF-7	breast:
6	chr11:64798286..64800870-chr11:64805869..64808336,2	K562	blood:
7	chr11:64798559..64800462-chr11:64801916..64804086,2	K562	blood:

Variant related genes	Relation type
ENSG00000110025	chromatin interactions
ENSG00000270775	chromatin interactions
ENSG00000213465	chromatin interactions
ENSG00000273003	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552913230	chr11:64800209-64800210	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs573021910	chr11:64800248-64800249	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs76947251	chr11:64800250-64800251	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs555086922	chr11:64800306-64800307	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs374997086	chr11:64800309-64800310	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs574590697	chr11:64800408-64800409	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs543415924	chr11:64800423-64800424	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs563303530	chr11:64800435-64800436	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs559644	chr11:64800438-64800439	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs187236671	chr11:64800444-64800445	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs559777876	chr11:64800464-64800465	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs541113384	chr11:64800505-64800506	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs528721964	chr11:64800511-64800512	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs189742497	chr11:64800524-64800525	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs561822625	chr11:64800594-64800595	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs530578915	chr11:64800628-64800629	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs550609316	chr11:64800637-64800638	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
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64795200-64808000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64795400-64808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64795600-64808000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:64795800-64802400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:64795800-64805000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:64795800-64807800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:64795800-64807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:64795800-64808000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:64795800-64808000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:64796000-64800600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:64796000-64801400	Weak transcription	Aorta	Aorta
12	chr11:64796000-64803000	Weak transcription	HSMMtube	muscle
13	chr11:64796000-64805000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:64796000-64805000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:64796000-64807400	Weak transcription	Stomach Mucosa	stomach
16	chr11:64796000-64807600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:64796000-64807800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:64796000-64807800	Weak transcription	Fetal Kidney	kidney
19	chr11:64796000-64808000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:64796200-64801600	Weak transcription	Brain Substantia Nigra	brain
21	chr11:64796200-64802000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:64796200-64803000	Weak transcription	NHLF	lung
23	chr11:64796200-64804200	Weak transcription	Fetal Heart	heart
24	chr11:64796200-64804400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:64796200-64805000	Weak transcription	NHDF-Ad	bronchial
26	chr11:64796200-64805600	Weak transcription	NH-A	brain
27	chr11:64796200-64807200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:64796200-64807200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:64796200-64807200	Weak transcription	K562	blood
30	chr11:64796200-64807800	Weak transcription	Small Intestine	intestine
31	chr11:64796200-64807800	Weak transcription	A549	lung
32	chr11:64796200-64807800	Weak transcription	HMEC	breast
33	chr11:64796200-64807800	Weak transcription	HUVEC	blood vessel
34	chr11:64796200-64807800	Weak transcription	NHEK	skin
35	chr11:64796200-64808000	Weak transcription	Osteobl	bone
36	chr11:64796400-64805400	Weak transcription	HSMM	muscle
37	chr11:64796400-64805800	Weak transcription	GM12878-XiMat	blood
38	chr11:64796400-64807400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:64796400-64807400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:64796400-64807600	Weak transcription	Fetal Brain Male	brain
41	chr11:64796400-64807800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:64796600-64807600	Strong transcription	Fetal Intestine Small	intestine
43	chr11:64796800-64806000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr11:64796800-64807400	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:64796800-64808000	Strong transcription	Fetal Stomach	stomach
46	chr11:64797000-64805000	Weak transcription	Psoas Muscle	Psoas
47	chr11:64798200-64806400	Strong transcription	Placenta	Placenta
48	chr11:64798400-64804200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:64798400-64806200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:64798400-64807400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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