Variant report

Variant	esv3514855
Chromosome Location	chr11:72499987-72500411
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	HNF4G	chr11:72500371-72500929	HepG2	liver:	n/a	chr11:72500776-72500789 chr11:72500383-72500395 chr11:72500775-72500788 chr11:72500383-72500395 chr11:72500776-72500788 chr11:72500383-72500395 chr11:72500775-72500790 chr11:72500773-72500791 chr11:72500775-72500789 chr11:72500776-72500788 chr11:72500776-72500788 chr11:72500775-72500790 chr11:72500775-72500790 chr11:72500776-72500788 chr11:72500777-72500789
2	MAX	chr11:72500299-72501221	HepG2	liver:	n/a	chr11:72500504-72500514 chr11:72500704-72500711
3	MAZ	chr11:72500356-72501522	IMR90	lung:	n/a	chr11:72500504-72500514 chr11:72500704-72500711
4	POLR2A	chr11:72500034-72500206	HepG2	liver:	n/a	n/a
5	RCOR1	chr11:72500317-72501405	IMR90	lung:	n/a	n/a
6	SMC3	chr11:72500306-72500331	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72486581..72489149-chr11:72499253..72500908,2	K562	blood:
2	chr11:72467563..72470218-chr11:72497187..72500008,4	K562	blood:
3	chr11:72490152..72495824-chr11:72496679..72500356,10	K562	blood:
4	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
5	chr11:72498324..72499997-chr11:72526151..72527916,2	K562	blood:
6	chr11:72498256..72500264-chr11:72897078..72899164,2	MCF-7	breast:
7	chr11:72459780..72464369-chr11:72496820..72501695,6	MCF-7	breast:

Variant related genes	Relation type
STARD10	TF binding region
ENSG00000186635	chromatin interactions
ENSG00000214530	chromatin interactions
ENSG00000168010	chromatin interactions
ENSG00000265064	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183563648	chr11:72499990-72499991	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs542039430	chr11:72500015-72500016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs560388416	chr11:72500059-72500060	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs485099	chr11:72500060-72500061	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs149217211	chr11:72500068-72500069	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs4944797	chr11:72500072-72500073	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs370897661	chr11:72500076-72500077	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs34399561	chr11:72500114-72500115	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs531309036	chr11:72500120-72500121	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs375482211	chr11:72500179-72500180	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs551007965	chr11:72500216-72500217	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs79118146	chr11:72500223-72500224	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs569562080	chr11:72500368-72500369	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs563909682	chr11:72500377-72500378	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region 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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	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
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	18438408	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
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493400-72500200	Weak transcription	Osteobl	bone
2	chr11:72493600-72500400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:72493600-72502400	Enhancers	Stomach Mucosa	stomach
4	chr11:72493800-72500400	Weak transcription	A549	lung
5	chr11:72493800-72500600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:72493800-72501200	Enhancers	Duodenum Mucosa	Duodenum
7	chr11:72493800-72503200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:72493800-72503600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:72494000-72500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:72494000-72500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:72494000-72500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:72494000-72500400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:72494000-72503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:72494000-72503600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:72494000-72504400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:72494000-72504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:72494200-72501800	Enhancers	Fetal Intestine Large	intestine
20	chr11:72494200-72503400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:72494600-72500200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:72494800-72500200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:72495000-72500600	Weak transcription	Fetal Brain Male	brain
24	chr11:72496000-72501400	Enhancers	Placenta	Placenta
25	chr11:72497000-72501200	Enhancers	Gastric	stomach
26	chr11:72497200-72500800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:72497200-72501200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:72497400-72500000	Enhancers	Primary hematopoietic stem cells	blood
29	chr11:72497400-72500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:72497800-72500200	Enhancers	Primary B cells from cord blood	blood
31	chr11:72498400-72501600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:72498400-72502000	Enhancers	Fetal Heart	heart
33	chr11:72498400-72502200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:72498600-72500400	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:72498600-72500400	Weak transcription	Fetal Stomach	stomach
36	chr11:72498600-72500600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:72498600-72503600	Weak transcription	Thymus	Thymus
38	chr11:72498800-72500400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:72498800-72500400	Weak transcription	Small Intestine	intestine
40	chr11:72498800-72503800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:72498800-72504200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:72499000-72500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:72499000-72500800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:72499000-72501000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:72499000-72501000	Enhancers	Adipose Nuclei	Adipose
46	chr11:72499000-72501400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:72499000-72504000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:72499000-72504000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:72499000-72504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:72499200-72500200	Weak transcription	Fetal Muscle Trunk	muscle

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