Variant report

Variant	nsv962557
Chromosome Location	chr20:13373466-13375760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569845861	chr20:13373555-13373556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538665791	chr20:13373569-13373570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558603874	chr20:13373628-13373629	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572044941	chr20:13373669-13373670	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs55794632	chr20:13373710-13373711	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs183100713	chr20:13373772-13373773	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs564634388	chr20:13373823-13373824	Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187365173	chr20:13373856-13373857	Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574325805	chr20:13373858-13373859	Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542850854	chr20:13373882-13373883	Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192273592	chr20:13373895-13373896	Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561948137	chr20:13373982-13373983	Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146671423	chr20:13374002-13374003	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564958646	chr20:13374087-13374088	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531831714	chr20:13374161-13374162	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs8182881	chr20:13374177-13374178	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1812562	chr20:13374180-13374181	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184295702	chr20:13374205-13374206	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs547579538	chr20:13374237-13374238	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529944547	chr20:13374261-13374262	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549686165	chr20:13374262-13374263	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs189973503	chr20:13374282-13374283	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569800360	chr20:13374372-13374373	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs375937165	chr20:13374456-13374457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552455371	chr20:13374459-13374460	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113438626	chr20:13374465-13374466	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192635337	chr20:13374479-13374480	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370918269	chr20:13374534-13374535	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs534591505	chr20:13374540-13374541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs148843622	chr20:13374584-13374585	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs77025831	chr20:13374588-13374589	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs184562521	chr20:13374632-13374633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556496163	chr20:13374649-13374650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142571915	chr20:13374654-13374655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545297868	chr20:13374655-13374656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558783058	chr20:13374696-13374697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572146589	chr20:13374714-13374715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371009758	chr20:13374729-13374730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566965098	chr20:13374749-13374750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56199942	chr20:13374761-13374762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532452767	chr20:13374795-13374796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541020377	chr20:13374854-13374855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537280932	chr20:13374869-13374870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372175452	chr20:13374886-13374887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560378578	chr20:13374887-13374888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561072273	chr20:13374895-13374896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60744114	chr20:13374906-13374907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58712775	chr20:13374909-13374910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60867049	chr20:13374915-13374916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370992557	chr20:13374920-13374921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13362600-13374000	Weak transcription	Fetal Lung	lung
2	chr20:13362600-13376800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:13362800-13380600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:13363200-13377400	Weak transcription	Fetal Brain Female	brain
5	chr20:13363600-13375800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr20:13363600-13375800	Weak transcription	HSMMtube	muscle
7	chr20:13363800-13376200	Weak transcription	Fetal Muscle Leg	muscle
8	chr20:13364000-13377400	Weak transcription	Brain Angular Gyrus	brain
9	chr20:13364400-13376400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
11	chr20:13364600-13374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr20:13364600-13379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr20:13364800-13375400	Weak transcription	Colonic Mucosa	Colon
15	chr20:13364800-13377600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr20:13365400-13375800	Weak transcription	HSMM	muscle
17	chr20:13365600-13376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:13366200-13373600	Weak transcription	Brain Hippocampus Middle	brain
19	chr20:13366200-13373800	Weak transcription	Esophagus	oesophagus
20	chr20:13366600-13375600	Weak transcription	Fetal Intestine Large	intestine
21	chr20:13366800-13375800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:13367200-13378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr20:13367600-13373800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr20:13368000-13376600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr20:13368600-13376000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr20:13368600-13376400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr20:13368600-13378400	Weak transcription	GM12878-XiMat	blood
28	chr20:13368600-13382400	Weak transcription	HMEC	breast
29	chr20:13368600-13397400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr20:13368800-13373600	Weak transcription	Fetal Stomach	stomach
31	chr20:13368800-13373600	Weak transcription	Pancreas	Pancrea
32	chr20:13368800-13375400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr20:13368800-13376400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr20:13368800-13392200	Weak transcription	Aorta	Aorta
35	chr20:13369000-13375200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr20:13369000-13411200	Strong transcription	Dnd41	blood
37	chr20:13369400-13377400	Weak transcription	Colon Smooth Muscle	Colon
38	chr20:13369400-13377600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr20:13369400-13380200	Weak transcription	Psoas Muscle	Psoas
40	chr20:13369400-13397000	Weak transcription	Primary B cells from cord blood	blood
41	chr20:13369400-13397200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr20:13369600-13373600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr20:13369600-13397000	Weak transcription	Fetal Thymus	thymus
44	chr20:13369800-13376000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr20:13370000-13375800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr20:13370000-13378400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr20:13370000-13382400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr20:13371000-13375800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:13371200-13373800	Weak transcription	Spleen	Spleen
50	chr20:13371200-13376000	Weak transcription	Adipose Nuclei	Adipose

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