Variant report

Variant	nsv528221
Chromosome Location	chr20:22732749-22767280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:22737582..22739507-chr20:22742394..22744607,2	MCF-7	breast:
2	chr20:22766590..22768153-chr20:22786046..22787967,2	MCF-7	breast:
3	chr20:22751785..22755071-chr20:22774743..22777587,3	MCF-7	breast:
4	chr20:22749168..22751913-chr20:22752671..22755024,2	K562	blood:
5	chr20:22725796..22727979-chr20:22752772..22755655,2	K562	blood:
6	chr20:22750822..22753112-chr20:23342133..23343673,2	MCF-7	breast:
7	chr20:22758707..22761958-chr20:22773482..22776532,3	MCF-7	breast:
8	chr20:22445014..22446819-chr20:22751132..22753387,2	MCF-7	breast:
9	chr20:22737582..22739507-chr20:22742394..22744607,2	MCF-7	breast:
10	chr20:22749168..22751913-chr20:22752671..22755024,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000125812	chromatin interactions

Extended variants
information (count: 1644 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1644 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6048327	chr20:22732749-22732750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539665752	chr20:22732766-22732767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556822487	chr20:22732796-22732797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113835962	chr20:22732843-22732844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17827832	chr20:22732845-22732846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555795803	chr20:22732853-22732854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186295064	chr20:22732891-22732892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148183252	chr20:22732992-22732993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570296111	chr20:22732994-22732995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537609028	chr20:22733030-22733031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541478377	chr20:22733114-22733115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188755301	chr20:22733158-22733159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564441395	chr20:22733175-22733176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76352236	chr20:22733256-22733257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373541890	chr20:22733266-22733267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545574132	chr20:22733268-22733269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115494994	chr20:22733275-22733276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531497562	chr20:22733295-22733296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548079329	chr20:22733304-22733305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371021253	chr20:22733335-22733336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527303473	chr20:22733336-22733337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571015560	chr20:22733337-22733338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181711122	chr20:22733368-22733369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570430648	chr20:22733376-22733377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539577628	chr20:22733386-22733387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556787462	chr20:22733408-22733409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375551759	chr20:22733412-22733413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570310627	chr20:22733415-22733416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536109063	chr20:22733476-22733477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556108350	chr20:22733494-22733495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572373564	chr20:22733589-22733590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13037976	chr20:22733613-22733614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs558161828	chr20:22733627-22733628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578025332	chr20:22733634-22733635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74546191	chr20:22733734-22733735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562293487	chr20:22733738-22733739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374722913	chr20:22733758-22733759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6036210	chr20:22733767-22733768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541685741	chr20:22733779-22733780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149731105	chr20:22733789-22733790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145613652	chr20:22733855-22733856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547061635	chr20:22733867-22733868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564150495	chr20:22733871-22733872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372970622	chr20:22733881-22733882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552893181	chr20:22733885-22733886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148490701	chr20:22733887-22733888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554206603	chr20:22733909-22733910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575851854	chr20:22733926-22733927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74406545	chr20:22733927-22733928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536074191	chr20:22733949-22733950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22726000-22739000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:22731400-22732800	Enhancers	Placenta	Placenta
3	chr20:22732000-22734200	Weak transcription	Fetal Muscle Leg	muscle
4	chr20:22732800-22733800	Enhancers	HSMMtube	muscle
5	chr20:22732800-22738000	Weak transcription	Placenta	Placenta
6	chr20:22733200-22735000	Enhancers	Aorta	Aorta
7	chr20:22733800-22737600	Weak transcription	HSMMtube	muscle
8	chr20:22734200-22734600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:22734200-22734600	Enhancers	Fetal Muscle Leg	muscle
10	chr20:22734400-22734600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:22734400-22734600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:22734400-22735000	Enhancers	Esophagus	oesophagus
13	chr20:22734600-22734800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:22734600-22738600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:22734800-22745200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:22735000-22735400	Weak transcription	Esophagus	oesophagus
17	chr20:22735000-22735600	Weak transcription	Aorta	Aorta
18	chr20:22735000-22736000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:22735400-22736600	Enhancers	Esophagus	oesophagus
20	chr20:22735600-22736200	Enhancers	Aorta	Aorta
21	chr20:22736000-22736600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr20:22736000-22736600	Enhancers	NHEK	skin
23	chr20:22736200-22736600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:22736200-22737800	Weak transcription	Aorta	Aorta
25	chr20:22736600-22739200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:22736600-22741200	Weak transcription	Esophagus	oesophagus
27	chr20:22736600-22741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr20:22737400-22737800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr20:22737400-22737800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr20:22737400-22739000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr20:22737600-22738800	Enhancers	K562	blood
32	chr20:22737600-22739400	Enhancers	HSMMtube	muscle
33	chr20:22737800-22738800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr20:22737800-22739600	Enhancers	Aorta	Aorta
35	chr20:22737800-22740000	Enhancers	HSMM	muscle
36	chr20:22737800-22749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:22738000-22738600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr20:22738000-22738800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr20:22738000-22739200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr20:22738000-22739400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr20:22738000-22739400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:22738000-22739400	Enhancers	NH-A	brain
43	chr20:22738000-22739600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr20:22738000-22739600	Enhancers	Fetal Muscle Leg	muscle
45	chr20:22738000-22739600	Enhancers	Placenta	Placenta
46	chr20:22738200-22738600	Enhancers	A549	lung
47	chr20:22738400-22739400	Enhancers	Dnd41	blood
48	chr20:22738600-22739000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr20:22738600-22739000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr20:22738600-22739200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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