Variant report

Variant	nsv962561
Chromosome Location	chr20:21723464-21736893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr20:21735896-21736241	GM12878	blood:	n/a	n/a
2	BCL11A	chr20:21735884-21736223	GM12878	blood:	n/a	n/a
3	CTCF	chr20:21729657-21729674	Lung_OC	lung:	n/a	n/a
4	CTCF	chr20:21736280-21736430	Caco-2	colon:	n/a	chr20:21736338-21736356
5	CTCF	chr20:21736300-21736450	HepG2	liver:	n/a	chr20:21736338-21736356
6	CTCF	chr20:21731625-21731697	LNCaP	prostate:	n/a	n/a
7	E2F4	chr20:21736429-21736629	MCF10A-Er-Src	breast:	n/a	n/a
8	EBF1	chr20:21735941-21736170	GM12878	blood:	n/a	n/a
9	EP300	chr20:21735947-21736130	GM12878	blood:	n/a	n/a
10	EP300	chr20:21735911-21736231	GM12878	blood:	n/a	n/a
11	FOSL2	chr20:21735808-21736259	HepG2	liver:	n/a	n/a
12	GABPA	chr20:21735849-21736141	Hela-S3	cervix:	n/a	n/a
13	GATA2	chr20:21735849-21736313	K562	blood:	n/a	n/a
14	HEY1	chr20:21735921-21736249	HepG2	liver:	n/a	n/a
15	HEY1	chr20:21735847-21736303	K562	blood:	n/a	n/a
16	HEY1	chr20:21735940-21736190	HepG2	liver:	n/a	n/a
17	HEY1	chr20:21735868-21736312	K562	blood:	n/a	n/a
18	IRF4	chr20:21735787-21736201	GM12878	blood:	n/a	n/a
19	JUND	chr20:21731676-21732206	T-47D	breast:	n/a	n/a
20	MYC	chr20:21723747-21723748	MCF-7	breast:	n/a	n/a
21	MYC	chr20:21723592-21723719	MCF-7	breast:	n/a	n/a
22	MYC	chr20:21723637-21723650	MCF-7	breast:	n/a	n/a
23	PAX5	chr20:21735990-21736236	GM12878	blood:	n/a	n/a
24	PAX5	chr20:21735781-21736306	GM12878	blood:	n/a	n/a
25	PAX5	chr20:21735857-21736273	GM12878	blood:	n/a	n/a
26	PBX3	chr20:21736089-21736267	GM12878	blood:	n/a	n/a
27	PBX3	chr20:21735931-21736239	GM12878	blood:	n/a	n/a
28	POLR2A	chr20:21723621-21723674	MCF-7	breast:	n/a	n/a
29	POLR2A	chr20:21735816-21736261	GM12891	blood:	n/a	n/a
30	POLR2A	chr20:21735856-21736226	GM12891	blood:	n/a	n/a
31	POLR2A	chr20:21735853-21736242	GM12891	blood:	n/a	n/a
32	POLR2A	chr20:21735798-21736338	GM12878	blood:	n/a	n/a
33	POLR2A	chr20:21735907-21736189	A549	lung:	n/a	n/a
34	POLR2A	chr20:21735878-21736195	A549	lung:	n/a	n/a
35	POLR2A	chr20:21735784-21736332	GM12892	blood:	n/a	n/a
36	POLR2A	chr20:21735836-21736318	GM12878	blood:	n/a	n/a
37	POLR2A	chr20:21723539-21723714	Gliobla	brain:	n/a	n/a
38	POLR2A	chr20:21735880-21736197	HepG2	liver:	n/a	n/a
39	POLR2A	chr20:21735762-21736505	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr20:21735841-21736235	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr20:21735862-21736339	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr20:21735854-21736223	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr20:21735817-21736307	GM12892	blood:	n/a	n/a
44	POLR2A	chr20:21735864-21736296	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr20:21735837-21736302	GM12892	blood:	n/a	n/a
46	POLR2A	chr20:21735875-21736249	GM12878	blood:	n/a	n/a
47	POLR2A	chr20:21735682-21736435	GM12892	blood:	n/a	n/a
48	POLR2A	chr20:21735903-21736125	A549	lung:	n/a	n/a
49	POLR2A	chr20:21735838-21736288	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr20:21735870-21736253	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX1-5	chr20:21735866-21736171	NONHSAT078957

No data

Variant related genes	Relation type
RPL41P1	TF binding region
SLC25A6P1	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537520750	chr20:21723508-21723509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs188669211	chr20:21723519-21723520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574153621	chr20:21723554-21723555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs368433961	chr20:21723602-21723603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149888910	chr20:21723609-21723610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113293653	chr20:21723614-21723615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs573160051	chr20:21723623-21723624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs180712619	chr20:21723636-21723637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540628540	chr20:21723684-21723685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563709526	chr20:21723703-21723704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs532900363	chr20:21723704-21723705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs6047604	chr20:21723719-21723720	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs563384996	chr20:21723738-21723739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs529076511	chr20:21723744-21723745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs549158596	chr20:21723749-21723750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565985973	chr20:21723792-21723793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs6082496	chr20:21723800-21723801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs7274703	chr20:21731568-21731569	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530162129	chr20:21731583-21731584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs528652332	chr20:21731649-21731650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs540368624	chr20:21731757-21731758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs6106402	chr20:21731820-21731821	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191475756	chr20:21731871-21731872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs117372237	chr20:21732017-21732018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs569470529	chr20:21732021-21732022	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs532006510	chr20:21732048-21732049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs562362199	chr20:21732060-21732061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs368731938	chr20:21732084-21732085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs567251519	chr20:21732089-21732090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs6047607	chr20:21732105-21732106	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370946105	chr20:21732131-21732132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs58888661	chr20:21732190-21732191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs55954818	chr20:21732191-21732192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs6047608	chr20:21732198-21732199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs56994776	chr20:21732204-21732205	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs375270016	chr20:21735694-21735695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs570106266	chr20:21735703-21735704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs529308345	chr20:21735704-21735705	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs549079615	chr20:21735709-21735710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs566178828	chr20:21735732-21735733	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs534791589	chr20:21735742-21735743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs145335477	chr20:21735773-21735774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs147671539	chr20:21735780-21735781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs537386763	chr20:21735833-21735834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs114851155	chr20:21735870-21735871	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs573951312	chr20:21735888-21735889	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs28674999	chr20:21735904-21735905	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs535457741	chr20:21735915-21735916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs550960950	chr20:21735950-21735951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs555030933	chr20:21735951-21735952	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21723400-21723800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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