Variant report

Variant	nsv525322
Chromosome Location	chr11:73728159-73728522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73692496..73695523-chr11:73726930..73730981,4	MCF-7	breast:
2	chr11:73692695..73694279-chr11:73727218..73729337,2	K562	blood:
3	chr11:73720266..73722742-chr11:73727653..73729816,3	K562	blood:
4	chr11:73721549..73725219-chr11:73728115..73731399,4	MCF-7	breast:
5	chr11:73726799..73729660-chr11:73730296..73732762,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175567	chromatin interactions
ENSG00000175564	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1685333	chr11:73728159-73728160	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562427604	chr11:73728160-73728161	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548144934	chr11:73728174-73728175	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs74725981	chr11:73728183-73728184	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs180795379	chr11:73728259-73728260	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs199707046	chr11:73728265-73728266	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs530087606	chr11:73728278-73728279	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs35967954	chr11:73728285-73728286	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567923141	chr11:73728309-73728310	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs80019645	chr11:73728428-73728429	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186031653	chr11:73728435-73728436	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs1726760	chr11:73728522-73728523	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
4	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
5	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:73711800-73729200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:73714200-73729800	Weak transcription	Hela-S3	cervix
11	chr11:73715000-73729800	Weak transcription	Ovary	ovary
12	chr11:73718600-73728800	Weak transcription	Liver	Liver
13	chr11:73720000-73743400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:73721200-73731600	Strong transcription	Fetal Brain Female	brain
15	chr11:73721400-73729600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:73721600-73729000	Strong transcription	Fetal Intestine Small	intestine
17	chr11:73721600-73729600	Strong transcription	Fetal Stomach	stomach
18	chr11:73721600-73729800	Weak transcription	HMEC	breast
19	chr11:73721600-73731400	Strong transcription	Brain Germinal Matrix	brain
20	chr11:73721800-73729200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:73721800-73730400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:73721800-73743000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:73722000-73744000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:73722200-73767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:73722400-73729800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:73722400-73731600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:73722600-73728200	Strong transcription	HSMMtube	muscle
28	chr11:73722600-73729000	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:73722800-73728800	Strong transcription	Placenta	Placenta
30	chr11:73722800-73729000	Weak transcription	Colonic Mucosa	Colon
31	chr11:73723000-73728200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:73723000-73728600	Weak transcription	Psoas Muscle	Psoas
33	chr11:73723000-73729200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr11:73723200-73728400	Enhancers	K562	blood
35	chr11:73723200-73729200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:73723200-73729200	Weak transcription	NHLF	lung
37	chr11:73723400-73729200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:73723400-73729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:73723600-73728200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:73723600-73729000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:73723800-73728600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:73724000-73728800	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:73724200-73728600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:73724200-73729600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:73724400-73728800	Weak transcription	Brain Substantia Nigra	brain
46	chr11:73724800-73746800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:73725200-73736400	Weak transcription	NHEK	skin
48	chr11:73725400-73740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr11:73725800-73728600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:73726000-73728600	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links