Variant report

Variant	nsv471781
Chromosome Location	chr11:73761444-73762053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:73761480-73761833	IMR90	lung:	n/a	chr11:73761640-73761653
2	NR3C1	chr11:73761583-73761985	A549	lung:	n/a	chr11:73761811-73761827 chr11:73761811-73761827 chr11:73761811-73761827 chr11:73761811-73761827 chr11:73761812-73761826

No.	Distal block	Cell Line	Cell type
1	chr11:73675167..73677040-chr11:73761333..73763414,2	K562	blood:
2	chr11:73759873..73761447-chr11:73795987..73798822,2	K562	blood:
3	chr11:73751293..73752862-chr11:73761257..73763074,2	MCF-7	breast:
4	chr11:73711424..73713992-chr11:73761628..73764111,2	K562	blood:

Variant related genes	Relation type
C2CD3	TF binding region
ENSG00000168014	chromatin interactions
ENSG00000175564	chromatin interactions
ENSG00000187726	chromatin interactions
ENSG00000255847	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554689290	chr11:73761466-73761467	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs147209496	chr11:73761473-73761474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs370363000	chr11:73761509-73761510	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs562163445	chr11:73761609-73761610	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs77798092	chr11:73761611-73761612	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs548169762	chr11:73761612-73761613	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs561793316	chr11:73761721-73761722	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs148669848	chr11:73761760-73761761	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs550732861	chr11:73761790-73761791	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs547758299	chr11:73761799-73761800	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs371025975	chr11:73761871-73761872	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs142141143	chr11:73761875-73761876	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs539676973	chr11:73761903-73761904	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs562758046	chr11:73761929-73761930	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs151171752	chr11:73761942-73761943	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs140186742	chr11:73761952-73761953	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs373146818	chr11:73761962-73761963	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs189441791	chr11:73761975-73761976	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs374417432	chr11:73762025-73762026	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73722200-73767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
3	chr11:73740000-73771000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:73745400-73764800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:73746000-73768000	Weak transcription	NHEK	skin
6	chr11:73746400-73766000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:73747000-73767000	Weak transcription	HepG2	liver
8	chr11:73750800-73783600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:73750800-73800400	Weak transcription	HMEC	breast
10	chr11:73751000-73780200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:73753000-73770400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:73753000-73781400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:73753200-73761600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:73753200-73765200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:73753200-73766600	Weak transcription	NH-A	brain
16	chr11:73753200-73767200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:73753200-73768200	Weak transcription	K562	blood
18	chr11:73753200-73770800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:73753200-73770800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:73753200-73778200	Weak transcription	Pancreas	Pancrea
21	chr11:73753200-73781600	Weak transcription	Fetal Kidney	kidney
22	chr11:73753200-73782000	Weak transcription	Fetal Brain Male	brain
23	chr11:73753200-73783400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:73753200-73783400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:73753200-73796400	Weak transcription	Small Intestine	intestine
26	chr11:73753200-73804600	Weak transcription	Colonic Mucosa	Colon
27	chr11:73753400-73781800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:73753400-73784800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:73753800-73767400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:73753800-73768400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:73756000-73762400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:73756000-73768800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:73756200-73762600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:73756200-73766800	Strong transcription	HSMM	muscle
35	chr11:73756200-73768800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:73756400-73764800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:73756400-73768800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:73757000-73769000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:73757200-73762400	Strong transcription	Fetal Stomach	stomach
40	chr11:73757200-73769000	Strong transcription	Dnd41	blood
41	chr11:73757200-73769400	Strong transcription	Primary B cells from cord blood	blood
42	chr11:73757200-73770200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:73757400-73769000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:73757800-73762000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:73758000-73762000	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:73758000-73764400	Strong transcription	Thymus	Thymus
47	chr11:73758200-73762000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:73758200-73765000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:73758200-73765000	Strong transcription	Left Ventricle	heart
50	chr11:73758200-73771000	Strong transcription	Primary T cells from cord blood	blood

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