Variant report

Variant	esv3376737
Chromosome Location	chr11:73466831-73467035
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	ZNF263	chr11:73466747-73467121	HEK293-T-REx	kidney:	n/a	chr11:73466894-73466915 chr11:73466939-73466960

No.	Distal block	Cell Line	Cell type
1	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
2	chr11:73464912..73467811-chr11:73468593..73470766,3	K562	blood:
3	chr11:73463976..73466866-chr11:73470733..73472493,3	MCF-7	breast:
4	chr11:73462463..73463972-chr11:73465902..73467482,2	K562	blood:
5	chr11:73465079..73468067-chr11:73498878..73500582,2	MCF-7	breast:
6	chr11:73465031..73469665-chr11:73470039..73474084,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256034	TF binding region
ENSG00000175581	chromatin interactions
ENSG00000175582	chromatin interactions
ENSG00000256034	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1792166	chr11:73466859-73466860	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150470230	chr11:73466863-73466864	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs570286502	chr11:73466892-73466893	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs145396288	chr11:73466915-73466916	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs201303156	chr11:73466917-73466918	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370212567	chr11:73466919-73466920	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs537457039	chr11:73466925-73466926	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs374203911	chr11:73466929-73466930	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376551048	chr11:73466932-73466933	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs146609566	chr11:73466938-73466939	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs34572663	chr11:73466953-73466954	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574464835	chr11:73466961-73466962	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs533909859	chr11:73466975-73466976	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs184710063	chr11:73466989-73466990	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs577013918	chr11:73466997-73466998	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs187565927	chr11:73467017-73467018	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
2	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
3	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
4	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:73430600-73468800	Weak transcription	NHLF	lung
6	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:73437000-73469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:73437600-73468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:73441200-73468600	Weak transcription	Dnd41	blood
10	chr11:73441200-73470000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:73442200-73469600	Weak transcription	HSMM	muscle
12	chr11:73442400-73469800	Weak transcription	Primary B cells from cord blood	blood
13	chr11:73446400-73468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:73446400-73468600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:73446600-73468800	Weak transcription	NHDF-Ad	bronchial
16	chr11:73446800-73468400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:73448200-73468600	Weak transcription	GM12878-XiMat	blood
18	chr11:73448800-73468800	Weak transcription	Fetal Brain Female	brain
19	chr11:73449400-73468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:73449600-73469600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:73451400-73468800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:73451600-73468600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:73456400-73469000	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:73457000-73467600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:73459000-73469600	Weak transcription	K562	blood
26	chr11:73459600-73468400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:73459800-73468800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:73460600-73467800	Enhancers	Fetal Intestine Large	intestine
29	chr11:73461600-73470200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:73461800-73467000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:73461800-73468800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:73461800-73469600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:73461800-73469800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:73461800-73470200	Weak transcription	Fetal Stomach	stomach
35	chr11:73462000-73468400	Weak transcription	HUVEC	blood vessel
36	chr11:73463000-73469000	Weak transcription	HSMMtube	muscle
37	chr11:73463600-73468400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:73463600-73469400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:73463600-73470000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:73463600-73470600	Weak transcription	Fetal Thymus	thymus
41	chr11:73463600-73470600	Weak transcription	Thymus	Thymus
42	chr11:73463600-73470800	Weak transcription	Gastric	stomach
43	chr11:73463800-73467000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:73463800-73468600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:73463800-73468600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:73463800-73468800	Weak transcription	Brain Germinal Matrix	brain
47	chr11:73463800-73470600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:73463800-73470600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:73464000-73467000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:73464000-73468400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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