Variant report

Variant	esv3381250
Chromosome Location	chr20:52330745-52334443
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57144515..57146371-chr20:52329082..52330779,2	MCF-7	breast:
2	chr20:48551975..48554489-chr20:52333136..52336076,2	MCF-7	breast:
3	chr11:65190043..65192539-chr20:52329283..52331971,3	MCF-7	breast:
4	chr20:52331960..52332702-chr4:53214789..53215309,2	MCF-7	breast:
5	chr17:57919913..57922639-chr20:52328479..52331084,2	MCF-7	breast:
6	chr17:56734892..56737825-chr20:52328650..52331819,3	MCF-7	breast:
7	chr17:57913883..57915449-chr20:52334275..52336255,2	MCF-7	breast:
8	chr20:47538326..47539861-chr20:52328073..52331013,2	MCF-7	breast:
9	chr20:46344123..46345787-chr20:52333550..52336487,2	MCF-7	breast:
10	chr20:52334345..52336317-chr20:52367627..52369291,2	K562	blood:
11	chr20:52332188..52334360-chr20:52334910..52337778,2	K562	blood:
12	chr17:56708102..56709685-chr20:52334422..52336895,2	MCF-7	breast:
13	chr20:52330608..52332474-chr9:130210566..130212276,2	MCF-7	breast:
14	chr20:52292608..52296429-chr20:52329359..52332532,3	K562	blood:
15	chr20:52332749..52333464-chr3:98352060..98352684,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202077	chromatin interactions
ENSG00000124198	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000124226	chromatin interactions
ENSG00000201302	chromatin interactions
ENSG00000197958	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6097541	chr20:52330777-52330778	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs190512923	chr20:52330778-52330779	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs551861217	chr20:52330792-52330793	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs570544325	chr20:52330817-52330818	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs180779234	chr20:52330838-52330839	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs147141538	chr20:52330870-52330871	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs556162338	chr20:52330896-52330897	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs566095696	chr20:52330901-52330902	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs368389030	chr20:52330916-52330917	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs575966061	chr20:52330924-52330925	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs185490692	chr20:52331101-52331102	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs740780	chr20:52331109-52331110	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150380414	chr20:52331159-52331160	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs540731363	chr20:52331172-52331173	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs576373313	chr20:52331213-52331214	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs578109970	chr20:52331217-52331218	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs544025530	chr20:52331223-52331224	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs137862123	chr20:52331228-52331229	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs548268469	chr20:52331250-52331251	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs190091110	chr20:52331257-52331258	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs549700930	chr20:52331258-52331259	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs559742729	chr20:52331259-52331260	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs528535421	chr20:52331270-52331271	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs551581388	chr20:52331341-52331342	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs571741849	chr20:52331430-52331431	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs568590460	chr20:52331522-52331523	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs181295278	chr20:52331547-52331548	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs149458213	chr20:52331552-52331553	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs557541871	chr20:52331593-52331594	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs569537303	chr20:52331608-52331609	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs535320491	chr20:52331643-52331644	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs555253658	chr20:52331651-52331652	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs571700319	chr20:52331722-52331723	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs534664199	chr20:52331729-52331730	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs557549484	chr20:52331730-52331731	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs577631077	chr20:52331744-52331745	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs543172195	chr20:52331752-52331753	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs78064959	chr20:52331780-52331781	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs5841960	chr20:52331781-52331782	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs397830579	chr20:52331799-52331800	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs186645699	chr20:52331826-52331827	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs117084780	chr20:52331836-52331837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs138617811	chr20:52331870-52331871	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs560136047	chr20:52331888-52331889	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs191952851	chr20:52331922-52331923	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs528473002	chr20:52331936-52331937	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs551787041	chr20:52331955-52331956	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs539763332	chr20:52331961-52331962	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs531007256	chr20:52331990-52331991	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34368454	chr20:52332097-52332098	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52325200-52334600	Weak transcription	Fetal Muscle Leg	muscle
2	chr20:52326200-52333000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr20:52327800-52330800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr20:52327800-52331200	Enhancers	Placenta	Placenta
5	chr20:52328000-52330800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr20:52328000-52331400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:52328200-52330800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr20:52328200-52330800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:52328800-52331800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr20:52329000-52331200	Weak transcription	Primary B cells from cord blood	blood
11	chr20:52329000-52331800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr20:52329200-52331000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr20:52329200-52333000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr20:52329400-52331200	Weak transcription	GM12878-XiMat	blood
15	chr20:52329600-52330800	Enhancers	HepG2	liver
16	chr20:52329600-52332600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr20:52330400-52341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:52330600-52331000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr20:52330800-52331800	Weak transcription	HepG2	liver
20	chr20:52330800-52337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr20:52331000-52331200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr20:52331000-52332400	Enhancers	Primary B cells from peripheral blood	blood
23	chr20:52331200-52331800	Enhancers	GM12878-XiMat	blood
24	chr20:52331200-52333400	Enhancers	Primary B cells from cord blood	blood
25	chr20:52331200-52340600	Weak transcription	Placenta	Placenta
26	chr20:52331200-52352600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr20:52331800-52332200	Flanking Active TSS	GM12878-XiMat	blood
28	chr20:52331800-52332200	Enhancers	HepG2	liver
29	chr20:52331800-52332800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr20:52331800-52336200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr20:52332200-52332400	Enhancers	GM12878-XiMat	blood
32	chr20:52332200-52340400	Weak transcription	HepG2	liver
33	chr20:52332400-52335400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr20:52332400-52335600	Weak transcription	GM12878-XiMat	blood
35	chr20:52332600-52334200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr20:52332800-52333200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr20:52333000-52333600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr20:52333000-52333600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:52333200-52334800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr20:52333400-52334800	Weak transcription	Primary B cells from cord blood	blood
41	chr20:52333600-52337400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr20:52334200-52334600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr20:52334200-52335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr20:52334200-52335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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