Variant report

Variant	nsv586212
Chromosome Location	chr20:52283851-52291481
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	chr20:52284600-52284750	GM12864	blood:	n/a	n/a
2	CTCF	chr20:52288000-52288150	MCF-7	breast:	n/a	n/a
3	CTCF	chr20:52290680-52290830	Caco-2	colon:	n/a	n/a
4	FOS	chr20:52289140-52289210	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
5	FOS	chr20:52289101-52289301	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
6	FOS	chr20:52289101-52289222	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
7	FOS	chr20:52289102-52289336	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
8	FOSL2	chr20:52288994-52290376	MCF-7	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
9	MAX	chr20:52284704-52284975	K562	blood:	n/a	chr20:52284873-52284880 chr20:52284872-52284881 chr20:52284871-52284881
10	POLR2A	chr20:52290882-52290986	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr20:52291131-52291300	ProgFib	skin:	n/a	n/a
12	TBP	chr20:52284786-52284948	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr20:52284682-52285016	K562	blood:	n/a	n/a
14	TEAD4	chr20:52286534-52286887	A549	lung:	n/a	n/a
15	TEAD4	chr20:52287771-52288350	A549	lung:	n/a	n/a
16	TEAD4	chr20:52284613-52285007	A549	lung:	n/a	n/a
17	TEAD4	chr20:52289199-52289702	A549	lung:	n/a	n/a
18	TEAD4	chr20:52289825-52290318	A549	lung:	n/a	n/a
19	TEAD4	chr20:52285591-52286389	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:52289917..52291642-chr20:52294041..52296411,2	K562	blood:
2	chr20:52282635..52286285-chr20:52290622..52294810,4	K562	blood:
3	chr1:149857213..149858924-chr20:52287835..52289728,2	MCF-7	breast:
4	chr20:52284172..52286343-chr20:55840232..55843068,2	MCF-7	breast:
5	chr17:56735175..56737916-chr20:52281249..52284058,2	MCF-7	breast:
6	chr20:52283302..52285226-chr20:55803017..55805365,2	MCF-7	breast:

Variant related genes	Relation type
RNU7-14P	TF binding region
ENSG00000238468	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000184678	chromatin interactions

Extended variants
information (count: 377 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13045807	chr20:52283851-52283852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573345897	chr20:52283861-52283862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs13037032	chr20:52283883-52283884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535918359	chr20:52283942-52283943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534624025	chr20:52283951-52283952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368087288	chr20:52283963-52283964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554859978	chr20:52283964-52283965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs8126358	chr20:52283991-52283992	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34694279	chr20:52284002-52284003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565339323	chr20:52284008-52284009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575890381	chr20:52284013-52284014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs8182645	chr20:52284022-52284023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544619128	chr20:52284041-52284042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561250803	chr20:52284064-52284065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139158763	chr20:52284065-52284066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370232141	chr20:52284066-52284067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540645298	chr20:52284082-52284083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192832954	chr20:52284094-52284095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6126911	chr20:52284112-52284113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532653247	chr20:52284155-52284156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117416515	chr20:52284157-52284158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546587104	chr20:52284207-52284208	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571390142	chr20:52284230-52284231	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530827011	chr20:52284231-52284232	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550639075	chr20:52284243-52284244	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs6126912	chr20:52284260-52284261	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11477790	chr20:52284298-52284299	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368351619	chr20:52284319-52284320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs530502829	chr20:52284338-52284339	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs535819768	chr20:52284396-52284397	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184777810	chr20:52284419-52284420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566191871	chr20:52284440-52284441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149527655	chr20:52284442-52284443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532175854	chr20:52284445-52284446	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188546833	chr20:52284463-52284464	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs551983200	chr20:52284472-52284473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375212056	chr20:52284500-52284501	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs7343855	chr20:52284508-52284509	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs7343856	chr20:52284509-52284510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544872865	chr20:52284537-52284538	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs73622205	chr20:52284538-52284539	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555267211	chr20:52284548-52284549	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs6022650	chr20:52284550-52284551	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs6022651	chr20:52284601-52284602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11907302	chr20:52284627-52284628	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs6013749	chr20:52284632-52284633	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs6091724	chr20:52284660-52284661	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs192929912	chr20:52284671-52284672	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540584825	chr20:52284699-52284700	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs560492325	chr20:52284766-52284767	Weak transcription	Chromatin interactive region	2 gene(s)	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	chr20:52279800-52285600	Weak transcription	HepG2	liver
5	chr20:52285400-52285800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr20:52285600-52286200	Enhancers	HepG2	liver
7	chr20:52285800-52286400	Enhancers	Fetal Intestine Large	intestine
8	chr20:52285800-52286400	Enhancers	Fetal Intestine Small	intestine
9	chr20:52285800-52286400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr20:52285800-52287200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr20:52286000-52287000	Enhancers	Duodenum Mucosa	Duodenum
12	chr20:52286200-52286800	Enhancers	Colonic Mucosa	Colon
13	chr20:52286200-52292600	Weak transcription	HepG2	liver
14	chr20:52286400-52287000	Enhancers	Placenta	Placenta
15	chr20:52286400-52287600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr20:52286600-52288000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr20:52287000-52287800	Weak transcription	Placenta	Placenta
18	chr20:52287000-52294200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr20:52287200-52287600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr20:52287600-52288200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr20:52287600-52288200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr20:52287600-52294200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:52287800-52288600	Enhancers	Placenta	Placenta
24	chr20:52288200-52294400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr20:52288600-52289800	Enhancers	Osteobl	bone
26	chr20:52288600-52291800	Weak transcription	Placenta	Placenta
27	chr20:52289000-52289200	Enhancers	NH-A	brain
28	chr20:52289200-52289400	Enhancers	A549	lung
29	chr20:52289200-52289600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr20:52289200-52289600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr20:52289200-52289600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr20:52289200-52289600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:52289200-52289600	Enhancers	HSMM	muscle
34	chr20:52289200-52289600	Enhancers	HSMMtube	muscle
35	chr20:52289200-52289600	Flanking Active TSS	NH-A	brain
36	chr20:52289400-52289800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr20:52289400-52289800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:52289400-52289800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr20:52289400-52293800	Weak transcription	A549	lung
40	chr20:52289600-52289800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr20:52289600-52293600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr20:52289600-52294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr20:52289600-52294000	Weak transcription	HSMMtube	muscle
44	chr20:52289600-52294200	Weak transcription	HSMM	muscle
45	chr20:52289600-52294200	Weak transcription	NH-A	brain
46	chr20:52289600-52295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:52289800-52290000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr20:52289800-52293600	Weak transcription	Osteobl	bone
49	chr20:52289800-52293800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr20:52289800-52294000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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