Variant report

Variant	nsv820064
Chromosome Location	chr11:18537683-18538721
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	CTCF	chr11:18538102-18538149	Spleen_OC	spleen:	n/a	n/a
2	POLR2A	chr11:18538053-18538088	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18538359..18545865-chr11:18546460..18550640,13	MCF-7	breast:
2	chr11:18533757..18535476-chr11:18537479..18539659,2	MCF-7	breast:

Variant related genes	Relation type
TSG101	TF binding region
ENSG00000256361	TF binding region
ENSG00000074319	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536369381	chr11:18537703-18537704	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374013951	chr11:18537704-18537705	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566603263	chr11:18537715-18537716	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140265012	chr11:18537763-18537764	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80254500	chr11:18537783-18537784	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386751179	chr11:18537800-18537801	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7928872	chr11:18537801-18537802	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs540425274	chr11:18537805-18537806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58515919	chr11:18537815-18537816	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs577477504	chr11:18537836-18537837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115752480	chr11:18537881-18537882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146216750	chr11:18537903-18537904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71313424	chr11:18537910-18537911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398040250	chr11:18537913-18537914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539568384	chr11:18537919-18537920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189113196	chr11:18537954-18537955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572865100	chr11:18537955-18537956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59032896	chr11:18537966-18537967	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs558733441	chr11:18538003-18538004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577012454	chr11:18538005-18538006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544069421	chr11:18538016-18538017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562838141	chr11:18538036-18538037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7934817	chr11:18538040-18538041	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs111632548	chr11:18538051-18538052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560207499	chr11:18538067-18538068	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527242670	chr11:18538102-18538103	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs557607314	chr11:18538127-18538128	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs560946458	chr11:18538205-18538206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149942126	chr11:18538217-18538218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12283473	chr11:18538263-18538264	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550873239	chr11:18538306-18538307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569404332	chr11:18538328-18538329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140091544	chr11:18538349-18538350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374828812	chr11:18538360-18538361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566529284	chr11:18538381-18538382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532981218	chr11:18538394-18538395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533927840	chr11:18538406-18538407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559051317	chr11:18538432-18538433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114011995	chr11:18538450-18538451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35840325	chr11:18538480-18538481	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182009878	chr11:18538487-18538488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556109070	chr11:18538529-18538530	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574650845	chr11:18538718-18538719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18496200-18538000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:18496200-18541200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:18496400-18542000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr11:18496600-18540600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:18496600-18541000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:18500000-18547000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:18504000-18540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:18509000-18540200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:18509000-18540600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:18509600-18540200	Strong transcription	Placenta	Placenta
11	chr11:18510800-18541400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr11:18513000-18544000	Weak transcription	Gastric	stomach
13	chr11:18513000-18544000	Weak transcription	Psoas Muscle	Psoas
14	chr11:18513000-18547600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:18514600-18540800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:18514800-18539800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:18515000-18540000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:18515000-18540600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:18515200-18538000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:18515400-18547200	Weak transcription	Stomach Mucosa	stomach
21	chr11:18515600-18537800	Strong transcription	Fetal Intestine Large	intestine
22	chr11:18516200-18538200	Strong transcription	Adipose Nuclei	Adipose
23	chr11:18516200-18538800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:18516200-18540400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:18516400-18540400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:18516800-18541800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:18517200-18540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:18518000-18539200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:18518200-18538600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:18518200-18540400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:18519200-18540600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:18519200-18540800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:18519200-18540800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:18519400-18540400	Strong transcription	Primary T cells from cord blood	blood
35	chr11:18521400-18540800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:18523800-18547400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:18524200-18547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:18524200-18547400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:18525400-18537800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr11:18525600-18538200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:18525800-18540000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:18526000-18540800	Strong transcription	Fetal Brain Female	brain
43	chr11:18526800-18538000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:18527200-18547200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:18527600-18545400	Weak transcription	Small Intestine	intestine
46	chr11:18529000-18538000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:18530200-18539200	Strong transcription	Fetal Lung	lung
48	chr11:18530200-18540400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:18530400-18537800	Strong transcription	Osteobl	bone
50	chr11:18530600-18537800	Strong transcription	HSMM	muscle

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