Variant report

Variant	esv3348127
Chromosome Location	chr20:52329646-52330164
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	chr20:52327738..52329665-chr20:55839158..55840882,2	MCF-7	breast:
2	chr17:59482922..59485740-chr20:52327701..52330610,2	MCF-7	breast:
3	chr17:57144515..57146371-chr20:52329082..52330779,2	MCF-7	breast:
4	chr11:65190043..65192539-chr20:52329283..52331971,3	MCF-7	breast:
5	chr20:47538326..47539861-chr20:52328073..52331013,2	MCF-7	breast:
6	chr20:52292608..52296429-chr20:52329359..52332532,3	K562	blood:
7	chr17:57919913..57922639-chr20:52328479..52331084,2	MCF-7	breast:
8	chr20:52309398..52311832-chr20:52327074..52329815,2	K562	blood:
9	chr17:56734892..56737825-chr20:52328650..52331819,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124198	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000101144	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557272169	chr20:52329649-52329650	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs4811455	chr20:52329663-52329664	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11907698	chr20:52329703-52329704	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4811456	chr20:52329709-52329710	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187485572	chr20:52329746-52329747	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs34552754	chr20:52329775-52329776	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs147843880	chr20:52329790-52329791	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs192667354	chr20:52329806-52329807	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs564540869	chr20:52329839-52329840	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs571677488	chr20:52329858-52329859	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562296924	chr20:52329902-52329903	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs115033393	chr20:52329918-52329919	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs541514829	chr20:52329937-52329938	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs561492577	chr20:52329963-52329964	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs527857957	chr20:52329976-52329977	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs6126927	chr20:52330053-52330054	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs56055743	chr20:52330083-52330084	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs6063980	chr20:52330122-52330123	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs183727947	chr20:52330123-52330124	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs550455593	chr20:52330130-52330131	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs60762133	chr20:52330138-52330139	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535894863	chr20:52330146-52330147	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs187012196	chr20:52330153-52330154	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52316200-52330400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:52325000-52330400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:52325200-52334600	Weak transcription	Fetal Muscle Leg	muscle
4	chr20:52326200-52333000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:52327600-52330000	Enhancers	Fetal Thymus	thymus
6	chr20:52327800-52330800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:52327800-52331200	Enhancers	Placenta	Placenta
8	chr20:52328000-52330800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:52328000-52331400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:52328200-52330400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:52328200-52330600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr20:52328200-52330600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr20:52328200-52330600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr20:52328200-52330800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr20:52328200-52330800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:52328400-52330600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr20:52328800-52330200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr20:52328800-52331800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr20:52329000-52331200	Weak transcription	Primary B cells from cord blood	blood
20	chr20:52329000-52331800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr20:52329200-52331000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr20:52329200-52333000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr20:52329400-52331200	Weak transcription	GM12878-XiMat	blood
24	chr20:52329600-52330000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr20:52329600-52330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr20:52329600-52330800	Enhancers	HepG2	liver
27	chr20:52329600-52332600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr20:52330000-52330600	Enhancers	HUES64 Cell Line	embryonic stem cell

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