Variant report

Variant	esv3417690
Chromosome Location	chr20:25354897-25360686
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25360614..25362965-chr20:25368758..25370561,4	K562	blood:
2	chr20:25359484..25361407-chr20:25367475..25371345,3	MCF-7	breast:
3	chr20:25341755..25344650-chr20:25359957..25362246,2	MCF-7	breast:
4	chr20:25360007..25361800-chr20:25361801..25365335,3	K562	blood:
5	chr20:25360394..25363180-chr20:25371562..25374296,2	MCF-7	breast:
6	chr20:25359494..25361888-chr20:25364164..25366430,2	MCF-7	breast:
7	chr20:25360141..25362802-chr20:25370574..25373399,2	K562	blood:
8	chr20:25354700..25357442-chr20:25369809..25371480,2	MCF-7	breast:
9	chr20:25356181..25358893-chr20:25361208..25363554,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100997	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551099465	chr20:25354918-25354919	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556033941	chr20:25354935-25354936	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149812737	chr20:25354939-25354940	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115274298	chr20:25354963-25354964	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574556042	chr20:25355029-25355030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191307206	chr20:25355046-25355047	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181424986	chr20:25355103-25355104	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375257322	chr20:25355159-25355160	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546469497	chr20:25355160-25355161	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562987142	chr20:25355167-25355168	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531946231	chr20:25355192-25355193	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548760016	chr20:25355193-25355194	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145877781	chr20:25355215-25355216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527358907	chr20:25355221-25355222	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574292147	chr20:25355232-25355233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539853363	chr20:25355255-25355256	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539398579	chr20:25355274-25355275	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556423282	chr20:25355282-25355283	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569807480	chr20:25355283-25355284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145796072	chr20:25355290-25355291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555112756	chr20:25355341-25355342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574621727	chr20:25355351-25355352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551451824	chr20:25355383-25355384	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185349058	chr20:25355387-25355388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553921462	chr20:25355388-25355389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577168900	chr20:25355389-25355390	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564189557	chr20:25355396-25355397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545831492	chr20:25355428-25355429	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563206340	chr20:25355445-25355446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74644753	chr20:25355470-25355471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532008894	chr20:25355480-25355481	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138655141	chr20:25355499-25355500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189716544	chr20:25355552-25355553	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567174393	chr20:25355616-25355617	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527422136	chr20:25355623-25355624	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535322912	chr20:25355628-25355629	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs67069812	chr20:25355678-25355679	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs533652428	chr20:25355722-25355723	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556004340	chr20:25355750-25355751	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574331982	chr20:25355795-25355796	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532948362	chr20:25355809-25355810	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182068630	chr20:25355891-25355892	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34670114	chr20:25355898-25355899	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7353468	chr20:25355924-25355925	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569633749	chr20:25355965-25355966	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs117357168	chr20:25355977-25355978	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73347078	chr20:25355986-25355987	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs66501707	chr20:25355999-25356000	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs187911716	chr20:25356005-25356006	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141271057	chr20:25356006-25356007	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	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:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25327400-25361400	Weak transcription	Primary T cells from cord blood	blood
2	chr20:25334600-25357600	Weak transcription	Fetal Muscle Leg	muscle
3	chr20:25334800-25362600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr20:25337000-25370000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr20:25337400-25355600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:25337600-25362800	Weak transcription	Spleen	Spleen
7	chr20:25338000-25369400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:25338200-25359000	Weak transcription	Fetal Intestine Large	intestine
9	chr20:25339400-25359600	Weak transcription	Lung	lung
10	chr20:25341800-25357600	Weak transcription	Ovary	ovary
11	chr20:25342200-25361800	Weak transcription	Primary B cells from cord blood	blood
12	chr20:25342200-25362600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr20:25342200-25370000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr20:25342400-25355600	Weak transcription	A549	lung
15	chr20:25342400-25357600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr20:25343800-25370000	Weak transcription	Small Intestine	intestine
17	chr20:25345200-25369800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr20:25345800-25357600	Weak transcription	Right Atrium	heart
19	chr20:25345800-25359400	Weak transcription	Left Ventricle	heart
20	chr20:25345800-25359600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr20:25345800-25361600	Weak transcription	K562	blood
22	chr20:25345800-25363200	Weak transcription	Esophagus	oesophagus
23	chr20:25345800-25369800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr20:25345800-25370000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr20:25345800-25370000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr20:25346200-25357600	Weak transcription	HepG2	liver
27	chr20:25346200-25362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr20:25346600-25355200	Weak transcription	Gastric	stomach
29	chr20:25347600-25357600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr20:25350600-25357000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:25351400-25357000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr20:25351400-25359800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr20:25351400-25369600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr20:25351800-25370000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:25352000-25356000	Weak transcription	Pancreas	Pancrea
36	chr20:25352000-25356800	Weak transcription	Brain Angular Gyrus	brain
37	chr20:25352000-25357200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr20:25352000-25359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr20:25352000-25359600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr20:25352000-25362600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr20:25352400-25355600	Weak transcription	Brain Substantia Nigra	brain
42	chr20:25352400-25357000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr20:25352600-25356000	Weak transcription	Brain Hippocampus Middle	brain
44	chr20:25352600-25356200	Weak transcription	Brain Anterior Caudate	brain
45	chr20:25353000-25370000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr20:25353800-25359800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr20:25353800-25361200	Weak transcription	Aorta	Aorta
48	chr20:25353800-25365200	Weak transcription	Fetal Lung	lung
49	chr20:25353800-25368800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr20:25353800-25370000	Weak transcription	Adipose Nuclei	Adipose

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