Variant report

Variant	nsv962544
Chromosome Location	chr20:25503311-25505365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25498962..25501422-chr20:25501455..25503650,2	MCF-7	breast:
2	chr20:25491299..25493041-chr20:25501976..25504817,2	K562	blood:
3	chr20:25503491..25506421-chr20:25552111..25554965,2	MCF-7	breast:
4	chr20:25504894..25507358-chr20:25508312..25510600,2	MCF-7	breast:
5	chr20:25487824..25490513-chr20:25503941..25506270,3	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 56 )

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	rs547937927	chr20:25503354-25503355	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192317979	chr20:25503380-25503381	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148445565	chr20:25503445-25503446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142707917	chr20:25503450-25503451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567105433	chr20:25503454-25503455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539318963	chr20:25503458-25503459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574498923	chr20:25503536-25503537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151002832	chr20:25503562-25503563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569266547	chr20:25503566-25503567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553970111	chr20:25503609-25503610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538250274	chr20:25503615-25503616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554722400	chr20:25503628-25503629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368766650	chr20:25503677-25503678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140952070	chr20:25503715-25503716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185208527	chr20:25503736-25503737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553908646	chr20:25503737-25503738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190061417	chr20:25503777-25503778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144605249	chr20:25503778-25503779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147913934	chr20:25503804-25503805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531162410	chr20:25503813-25503814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555411902	chr20:25503824-25503825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541831089	chr20:25503840-25503841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114288414	chr20:25503886-25503887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs141751406	chr20:25503890-25503891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527362864	chr20:25503920-25503921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547205280	chr20:25504012-25504013	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs567068739	chr20:25504032-25504033	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141642223	chr20:25504052-25504053	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184753336	chr20:25504077-25504078	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569577412	chr20:25504139-25504140	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs537826269	chr20:25504140-25504141	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548582325	chr20:25504144-25504145	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs568398545	chr20:25504222-25504223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534295366	chr20:25504238-25504239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553887443	chr20:25504242-25504243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73335382	chr20:25504267-25504268	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539249093	chr20:25504318-25504319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112966038	chr20:25504322-25504323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575946246	chr20:25504340-25504341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188295431	chr20:25504341-25504342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180771162	chr20:25504342-25504343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147050025	chr20:25504363-25504364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371055635	chr20:25504371-25504372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552721935	chr20:25504425-25504426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59800380	chr20:25504436-25504437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376096635	chr20:25504438-25504439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562457802	chr20:25504439-25504440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6138593	chr20:25504492-25504493	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs563144241	chr20:25504505-25504506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532018424	chr20:25504523-25504524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25489400-25505800	Weak transcription	NHDF-Ad	bronchial
2	chr20:25491200-25506200	Weak transcription	NHLF	lung
3	chr20:25493200-25512800	Weak transcription	Colon Smooth Muscle	Colon
4	chr20:25493600-25513000	Weak transcription	Left Ventricle	heart
5	chr20:25495600-25504800	Weak transcription	Osteobl	bone
6	chr20:25495800-25506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:25495800-25519400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr20:25496000-25512400	Weak transcription	Brain Angular Gyrus	brain
9	chr20:25496000-25513200	Weak transcription	HUVEC	blood vessel
10	chr20:25496400-25505800	Weak transcription	NH-A	brain
11	chr20:25496400-25506400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr20:25497400-25512400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr20:25497400-25512400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr20:25497400-25514800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr20:25497600-25506400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:25497600-25507200	Weak transcription	Colonic Mucosa	Colon
17	chr20:25497600-25512600	Weak transcription	Fetal Heart	heart
18	chr20:25497800-25506400	Weak transcription	HSMMtube	muscle
19	chr20:25497800-25512200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr20:25498000-25504800	Weak transcription	Lung	lung
21	chr20:25498000-25505800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:25498000-25506400	Weak transcription	Fetal Brain Male	brain
23	chr20:25498000-25506600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr20:25498000-25511000	Weak transcription	Brain Hippocampus Middle	brain
25	chr20:25498200-25503400	Weak transcription	Thymus	Thymus
26	chr20:25498200-25504000	Weak transcription	Fetal Intestine Small	intestine
27	chr20:25498200-25504000	Weak transcription	Fetal Stomach	stomach
28	chr20:25498200-25504800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:25498200-25504800	Weak transcription	Esophagus	oesophagus
30	chr20:25498200-25504800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr20:25498200-25505800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:25498200-25505800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr20:25498200-25505800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr20:25498200-25505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr20:25498200-25505800	Weak transcription	Aorta	Aorta
36	chr20:25498200-25505800	Weak transcription	Spleen	Spleen
37	chr20:25498200-25506600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr20:25498200-25506600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:25498200-25507000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr20:25498200-25507000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr20:25498200-25510800	Weak transcription	Brain Substantia Nigra	brain
42	chr20:25498200-25512200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr20:25498200-25512200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr20:25498200-25512600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr20:25498200-25512600	Weak transcription	Brain Anterior Caudate	brain
46	chr20:25498200-25512800	Weak transcription	Adipose Nuclei	Adipose
47	chr20:25498200-25513000	Weak transcription	Fetal Thymus	thymus
48	chr20:25498200-25514600	Weak transcription	Pancreas	Pancrea
49	chr20:25498200-25519000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr20:25498200-25519400	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links