Variant report

Variant	nsv913425
Chromosome Location	chr21:18035045-18057633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 491 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541328327	chr21:18045018-18045019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2823959	chr21:18045028-18045029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs551990210	chr21:18045040-18045041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572592193	chr21:18045044-18045045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74314264	chr21:18045076-18045077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200424439	chr21:18045132-18045133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75257502	chr21:18045135-18045136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76759739	chr21:18045136-18045137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550099002	chr21:18045173-18045174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563221331	chr21:18045174-18045175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182616945	chr21:18045195-18045196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11368625	chr21:18045403-18045404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9784203	chr21:18045409-18045410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs149018975	chr21:18045422-18045423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59127546	chr21:18045423-18045424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397945361	chr21:18045447-18045448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191821727	chr21:18045479-18045480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536304766	chr21:18045489-18045490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2823960	chr21:18045539-18045540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs2823961	chr21:18045574-18045575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs576822324	chr21:18045633-18045634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376302141	chr21:18045651-18045652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539308950	chr21:18045758-18045759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558992511	chr21:18045773-18045774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184063170	chr21:18045782-18045783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74781531	chr21:18045805-18045806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72631903	chr21:18045822-18045823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189094293	chr21:18045853-18045854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543199697	chr21:18045857-18045858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139716898	chr21:18045871-18045872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7277443	chr21:18045878-18045879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs78980328	chr21:18045895-18045896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73367206	chr21:18045964-18045965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149798491	chr21:18045982-18045983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554026558	chr21:18046033-18046034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548294234	chr21:18046034-18046035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568046374	chr21:18046058-18046059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7282138	chr21:18046060-18046061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs192310511	chr21:18046080-18046081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145763124	chr21:18046098-18046099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7281422	chr21:18046132-18046133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs533411753	chr21:18046143-18046144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182275846	chr21:18046150-18046151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572453212	chr21:18046156-18046157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7281452	chr21:18046200-18046201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs117261462	chr21:18046205-18046206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77196982	chr21:18046229-18046230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565555723	chr21:18046230-18046231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2823962	chr21:18046232-18046233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
50	rs576589357	chr21:18046256-18046257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18045000-18045200	Enhancers	Liver	Liver
2	chr21:18045400-18046600	Weak transcription	Liver	Liver
3	chr21:18046000-18049400	Enhancers	Fetal Intestine Small	intestine
4	chr21:18046600-18048000	Enhancers	Liver	Liver
5	chr21:18047600-18047800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:18047800-18048000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:18047800-18048000	Enhancers	Osteobl	bone
8	chr21:18047800-18049200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:18048000-18049000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:18048000-18049000	Weak transcription	Osteobl	bone
11	chr21:18048200-18048400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:18048600-18049200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:18048600-18049400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:18049000-18049400	Enhancers	Fetal Muscle Leg	muscle
15	chr21:18049000-18049400	Enhancers	Osteobl	bone
16	chr21:18049000-18049600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:18049200-18049400	Enhancers	Fetal Lung	lung
18	chr21:18049200-18050800	Enhancers	Ovary	ovary
19	chr21:18049200-18051200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:18049600-18050600	Weak transcription	Fetal Lung	lung
21	chr21:18049600-18051000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:18050400-18050800	Enhancers	Colon Smooth Muscle	Colon
23	chr21:18050600-18051200	Enhancers	Fetal Stomach	stomach
24	chr21:18050600-18051400	Enhancers	Fetal Lung	lung
25	chr21:18051000-18051400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:18051400-18056800	Weak transcription	Fetal Lung	lung

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