Variant report

Variant	esv3376626
Chromosome Location	chr21:17363331-17365429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17364798..17365299-chr9:107784199..107784699,2	Hela-S3	cervix:
2	chr21:17359620..17362061-chr21:17365249..17368112,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs419827	chr21:17363354-17363355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577229445	chr21:17363361-17363362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111353721	chr21:17363362-17363363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9305758	chr21:17363400-17363401	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560040230	chr21:17363411-17363412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9984430	chr21:17363414-17363415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs419867	chr21:17363428-17363429	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146174489	chr21:17363439-17363440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368847857	chr21:17363467-17363468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371778193	chr21:17363477-17363478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531485426	chr21:17363488-17363489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2823534	chr21:17363495-17363496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564535341	chr21:17363558-17363559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533385519	chr21:17363589-17363590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546995601	chr21:17363610-17363611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs420519	chr21:17363641-17363642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73187483	chr21:17363661-17363662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs420571	chr21:17363696-17363697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532884539	chr21:17363726-17363727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558229899	chr21:17363727-17363728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369514062	chr21:17363757-17363758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs420806	chr21:17363809-17363810	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138969106	chr21:17363810-17363811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570984220	chr21:17363815-17363816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546074781	chr21:17363827-17363828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184792021	chr21:17363888-17363889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566295726	chr21:17363929-17363930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553475596	chr21:17363977-17363978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs118022770	chr21:17364001-17364002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114548586	chr21:17364022-17364023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547903643	chr21:17364045-17364046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556380555	chr21:17364064-17364065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112924883	chr21:17364083-17364084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188341467	chr21:17364235-17364236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536740495	chr21:17364266-17364267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545193888	chr21:17364332-17364333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564598761	chr21:17364370-17364371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200460004	chr21:17364379-17364380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370390219	chr21:17364395-17364396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191256831	chr21:17364451-17364452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77671208	chr21:17364515-17364516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533450045	chr21:17364541-17364542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117703668	chr21:17364545-17364546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560282637	chr21:17364569-17364570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373867514	chr21:17364617-17364618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73187487	chr21:17364642-17364643	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs200271544	chr21:17364672-17364673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200851230	chr21:17364673-17364674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201655778	chr21:17364674-17364675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200546999	chr21:17364675-17364676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	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
Gastric cancer	18160780	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17359000-17363600	Weak transcription	Fetal Kidney	kidney
2	chr21:17361000-17363400	Weak transcription	HUVEC	blood vessel
3	chr21:17363400-17365200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr21:17363400-17365600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr21:17363400-17365600	Enhancers	HUVEC	blood vessel
6	chr21:17363600-17363800	Enhancers	Fetal Kidney	kidney
7	chr21:17363600-17363800	Enhancers	Hela-S3	cervix
8	chr21:17363600-17365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:17363800-17364800	Weak transcription	Hela-S3	cervix
10	chr21:17364400-17364800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:17364400-17364800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:17364400-17365200	Enhancers	HSMM	muscle
13	chr21:17364600-17365000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:17364600-17365000	Enhancers	A549	lung
15	chr21:17364600-17365200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:17364600-17365200	Enhancers	Osteobl	bone
17	chr21:17364800-17365200	Enhancers	Hela-S3	cervix
18	chr21:17364800-17365200	Enhancers	NH-A	brain
19	chr21:17364800-17368400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:17365000-17367400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:17365200-17367800	Weak transcription	Osteobl	bone

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