Variant report

Variant	esv10817
Chromosome Location	chr20:52285691-52292074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:52290680-52290830	Caco-2	colon:	n/a	n/a
2	CTCF	chr20:52288000-52288150	MCF-7	breast:	n/a	n/a
3	FOS	chr20:52289101-52289301	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
4	FOS	chr20:52289101-52289222	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
5	FOS	chr20:52289102-52289336	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
6	FOS	chr20:52289140-52289210	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
7	FOSL2	chr20:52288994-52290376	MCF-7	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
8	POLR2A	chr20:52291911-52292056	ProgFib	skin:	n/a	n/a
9	POLR2A	chr20:52290882-52290986	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr20:52291131-52291300	ProgFib	skin:	n/a	n/a
11	RAD21	chr20:52291658-52291932	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr20:52286534-52286887	A549	lung:	n/a	n/a
13	TEAD4	chr20:52289199-52289702	A549	lung:	n/a	n/a
14	TEAD4	chr20:52285591-52286389	A549	lung:	n/a	n/a
15	TEAD4	chr20:52289825-52290318	A549	lung:	n/a	n/a
16	TEAD4	chr20:52287771-52288350	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:52282635..52286285-chr20:52290622..52294810,4	K562	blood:
2	chr1:149857213..149858924-chr20:52287835..52289728,2	MCF-7	breast:
3	chr20:52289917..52291642-chr20:52294041..52296411,2	K562	blood:
4	chr20:52284172..52286343-chr20:55840232..55843068,2	MCF-7	breast:

Variant related genes	Relation type
RNU7-14P	TF binding region
ENSG00000226308	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000238468	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534471191	chr20:52285746-52285747	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs372344318	chr20:52285762-52285763	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs6097514	chr20:52285776-52285777	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs577490864	chr20:52285793-52285794	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs534167864	chr20:52285829-52285830	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs190858005	chr20:52285832-52285833	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs12624860	chr20:52285882-52285883	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs532151744	chr20:52285975-52285976	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs541967667	chr20:52286026-52286027	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs560960915	chr20:52286038-52286039	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs550136126	chr20:52286039-52286040	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs34227493	chr20:52286054-52286055	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs6068612	chr20:52286070-52286071	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs74326355	chr20:52286078-52286079	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs574326235	chr20:52286085-52286086	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs565742653	chr20:52286097-52286098	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs540053415	chr20:52286103-52286104	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs77390312	chr20:52286110-52286111	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs183274158	chr20:52286139-52286140	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs6097515	chr20:52286237-52286238	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144801410	chr20:52286260-52286261	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs370859232	chr20:52286320-52286321	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs73281878	chr20:52286330-52286331	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs116777216	chr20:52286333-52286334	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs79001614	chr20:52286354-52286355	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs77010812	chr20:52286363-52286364	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs548520708	chr20:52286418-52286419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112492246	chr20:52286434-52286435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571019239	chr20:52286486-52286487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528196912	chr20:52286498-52286499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537321937	chr20:52286503-52286504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557436806	chr20:52286529-52286530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535539277	chr20:52286530-52286531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555407443	chr20:52286538-52286539	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs373541797	chr20:52286572-52286573	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs539990772	chr20:52286601-52286602	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs553940929	chr20:52286631-52286632	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs577051942	chr20:52286633-52286634	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs546124455	chr20:52286636-52286637	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs546730819	chr20:52286648-52286649	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs562320901	chr20:52286673-52286674	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs531365557	chr20:52286684-52286685	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs570815947	chr20:52286694-52286695	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs186469792	chr20:52286721-52286722	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs561723152	chr20:52286726-52286727	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs145408528	chr20:52286739-52286740	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs539558583	chr20:52286784-52286785	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547668019	chr20:52286890-52286891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377482723	chr20:52286915-52286916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370837717	chr20:52286918-52286919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Esophageal adenocarcinoma	18519675	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52277000-52290800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:52278400-52289400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:52279600-52285800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr20:52285400-52285800	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr20:52285600-52286200	Enhancers	HepG2	liver
6	chr20:52285800-52286400	Enhancers	Fetal Intestine Large	intestine
7	chr20:52285800-52286400	Enhancers	Fetal Intestine Small	intestine
8	chr20:52285800-52286400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr20:52285800-52287200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr20:52286000-52287000	Enhancers	Duodenum Mucosa	Duodenum
11	chr20:52286200-52286800	Enhancers	Colonic Mucosa	Colon
12	chr20:52286200-52292600	Weak transcription	HepG2	liver
13	chr20:52286400-52287000	Enhancers	Placenta	Placenta
14	chr20:52286400-52287600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr20:52286600-52288000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr20:52287000-52287800	Weak transcription	Placenta	Placenta
17	chr20:52287000-52294200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr20:52287200-52287600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr20:52287600-52288200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr20:52287600-52288200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr20:52287600-52294200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr20:52287800-52288600	Enhancers	Placenta	Placenta
23	chr20:52288200-52294400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr20:52288600-52289800	Enhancers	Osteobl	bone
25	chr20:52288600-52291800	Weak transcription	Placenta	Placenta
26	chr20:52289000-52289200	Enhancers	NH-A	brain
27	chr20:52289200-52289400	Enhancers	A549	lung
28	chr20:52289200-52289600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr20:52289200-52289600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr20:52289200-52289600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr20:52289200-52289600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr20:52289200-52289600	Enhancers	HSMM	muscle
33	chr20:52289200-52289600	Enhancers	HSMMtube	muscle
34	chr20:52289200-52289600	Flanking Active TSS	NH-A	brain
35	chr20:52289400-52289800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr20:52289400-52289800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr20:52289400-52289800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr20:52289400-52293800	Weak transcription	A549	lung
39	chr20:52289600-52289800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr20:52289600-52293600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:52289600-52294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr20:52289600-52294000	Weak transcription	HSMMtube	muscle
43	chr20:52289600-52294200	Weak transcription	HSMM	muscle
44	chr20:52289600-52294200	Weak transcription	NH-A	brain
45	chr20:52289600-52295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr20:52289800-52290000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr20:52289800-52293600	Weak transcription	Osteobl	bone
48	chr20:52289800-52293800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr20:52289800-52294000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr20:52290000-52294000	Weak transcription	Muscle Satellite Cultured Cells	--

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