Variant report

Variant	nsv586220
Chromosome Location	chr20:52289465-52291854
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	FOSL2	chr20:52288994-52290376	MCF-7	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
3	POLR2A	chr20:52291131-52291300	ProgFib	skin:	n/a	n/a
4	POLR2A	chr20:52290882-52290986	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr20:52291658-52291932	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr20:52289825-52290318	A549	lung:	n/a	n/a
7	TEAD4	chr20:52289199-52289702	A549	lung:	n/a	n/a

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

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

Extended variants
information (count: 126 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73134212	chr20:52289518-52289519	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149942662	chr20:52289520-52289521	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs565783569	chr20:52289547-52289548	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs547868834	chr20:52289551-52289552	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs57029812	chr20:52289561-52289562	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs528363942	chr20:52289579-52289580	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs62206450	chr20:52289581-52289582	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs138244488	chr20:52289612-52289613	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs571531499	chr20:52289625-52289626	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs149082885	chr20:52289671-52289672	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs550915101	chr20:52289689-52289690	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs201792783	chr20:52289693-52289694	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs6068614	chr20:52289702-52289703	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182697995	chr20:52289743-52289744	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535991517	chr20:52289771-52289772	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs138904951	chr20:52289775-52289776	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377153026	chr20:52289818-52289819	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs573394000	chr20:52289826-52289827	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs115223726	chr20:52289839-52289840	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558959310	chr20:52289862-52289863	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs187430561	chr20:52289869-52289870	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs544577507	chr20:52289876-52289877	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542765543	chr20:52289883-52289884	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370291389	chr20:52289934-52289935	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555928460	chr20:52289995-52289996	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192230971	chr20:52290022-52290023	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559483591	chr20:52290027-52290028	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs374210264	chr20:52290045-52290046	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs142863286	chr20:52290100-52290101	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs556259403	chr20:52290108-52290109	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530721499	chr20:52290111-52290112	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs550159959	chr20:52290116-52290117	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs566953833	chr20:52290142-52290143	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs183163573	chr20:52290191-52290192	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs35241466	chr20:52290223-52290224	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566584451	chr20:52290249-52290250	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538809727	chr20:52290291-52290292	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs566193449	chr20:52290334-52290335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76444828	chr20:52290346-52290347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559116854	chr20:52290348-52290349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575999863	chr20:52290349-52290350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74179227	chr20:52290351-52290352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371147591	chr20:52290354-52290355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576140320	chr20:52290361-52290362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188691491	chr20:52290362-52290363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540637797	chr20:52290377-52290378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375680545	chr20:52290391-52290392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34537877	chr20:52290412-52290413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577213942	chr20:52290415-52290416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544996729	chr20:52290424-52290425	Weak transcription	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52277000-52290800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:52286200-52292600	Weak transcription	HepG2	liver
3	chr20:52287000-52294200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr20:52287600-52294200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:52288200-52294400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr20:52288600-52289800	Enhancers	Osteobl	bone
7	chr20:52288600-52291800	Weak transcription	Placenta	Placenta
8	chr20:52289200-52289600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:52289200-52289600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:52289200-52289600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr20:52289200-52289600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:52289200-52289600	Enhancers	HSMM	muscle
13	chr20:52289200-52289600	Enhancers	HSMMtube	muscle
14	chr20:52289200-52289600	Flanking Active TSS	NH-A	brain
15	chr20:52289400-52289800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:52289400-52289800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr20:52289400-52289800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:52289400-52293800	Weak transcription	A549	lung
19	chr20:52289600-52289800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr20:52289600-52293600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:52289600-52294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr20:52289600-52294000	Weak transcription	HSMMtube	muscle
23	chr20:52289600-52294200	Weak transcription	HSMM	muscle
24	chr20:52289600-52294200	Weak transcription	NH-A	brain
25	chr20:52289600-52295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:52289800-52290000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr20:52289800-52293600	Weak transcription	Osteobl	bone
28	chr20:52289800-52293800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:52289800-52294000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:52290000-52294000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr20:52290800-52291400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr20:52291400-52296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr20:52291800-52292800	Enhancers	Placenta	Placenta

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