Variant report

Variant	nsv585718
Chromosome Location	chr20:21917393-21961410
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	CEBPB	chr20:21945588-21945696	H1-hESC	embryonic stem cell:	n/a	chr20:21945607-21945618
2	CEBPB	chr20:21936923-21937219	HepG2	liver:	n/a	chr20:21937071-21937082
3	CEBPB	chr20:21945527-21945727	HepG2	liver:	n/a	chr20:21945607-21945618
4	CEBPB	chr20:21921762-21921949	A549	lung:	n/a	n/a
5	CEBPB	chr20:21921800-21922012	HepG2	liver:	n/a	n/a
6	CEBPB	chr20:21959074-21959272	HepG2	liver:	n/a	chr20:21959188-21959199
7	CTCF	chr20:21949200-21949350	HMF	breast:	n/a	n/a
8	CTCF	chr20:21949160-21949310	HepG2	liver:	n/a	n/a
9	CTCF	chr20:21922960-21923110	HAc	cerebellar:	n/a	chr20:21923012-21923025
10	CTCF	chr20:21949280-21949430	AG10803	skin:	n/a	n/a
11	CTCF	chr20:21949169-21949521	MCF-7	breast:	n/a	n/a
12	CTCF	chr20:21949166-21949453	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr20:21949288-21949365	Fibrobl	skin:	n/a	n/a
14	CTCF	chr20:21936140-21936290	Caco-2	colon:	n/a	n/a
15	CTCF	chr20:21949238-21949375	MCF-7	breast:	n/a	n/a
16	CTCF	chr20:21949120-21949270	A549	lung:	n/a	n/a
17	CTCF	chr20:21949220-21949370	HEK293	kidney:	n/a	n/a
18	CTCF	chr20:21949240-21949390	HCFaa	heart:	n/a	n/a
19	CTCF	chr20:21923020-21923170	A549	lung:	n/a	n/a
20	CTCF	chr20:21949210-21949388	LNCaP	prostate:	n/a	n/a
21	CTCF	chr20:21949220-21949370	MCF-7	breast:	n/a	n/a
22	CTCF	chr20:21949220-21949370	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr20:21949226-21949372	ProgFib	skin:	n/a	n/a
24	CTCF	chr20:21949229-21949353	HepG2	liver:	n/a	n/a
25	CTCF	chr20:21949124-21949382	HepG2	liver:	n/a	n/a
26	CTCF	chr20:21949220-21949370	HMF	breast:	n/a	n/a
27	CTCF	chr20:21949212-21949386	MCF-7	breast:	n/a	n/a
28	CTCF	chr20:21949220-21949370	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr20:21949220-21949370	HepG2	liver:	n/a	n/a
30	CTCF	chr20:21949199-21949394	HepG2	liver:	n/a	n/a
31	CTCF	chr20:21949240-21949390	MCF-7	breast:	n/a	n/a
32	CTCF	chr20:21949200-21949350	SAEC	small airway:	n/a	n/a
33	CTCF	chr20:21949140-21949290	AG09309	skin:	n/a	n/a
34	CTCF	chr20:21949220-21949370	Caco-2	colon:	n/a	n/a
35	CTCF	chr20:21949248-21949383	GM12878	blood:	n/a	n/a
36	CTCF	chr20:21949180-21949330	A549	lung:	n/a	n/a
37	CTCF	chr20:21927660-21927745	GM10248	blood:	n/a	n/a
38	CTCF	chr20:21949210-21949347	LNCaP	prostate:	n/a	n/a
39	CTCF	chr20:21949140-21949290	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr20:21949200-21949350	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr20:21949223-21949399	A549	lung:	n/a	n/a
42	CTCF	chr20:21949160-21949310	Caco-2	colon:	n/a	n/a
43	CTCF	chr20:21922960-21923110	HepG2	liver:	n/a	chr20:21923012-21923025
44	FOXA1	chr20:21923395-21923725	T-47D	breast:	n/a	n/a
45	FOXA1	chr20:21923377-21923777	T-47D	breast:	n/a	n/a
46	GATA3	chr20:21923365-21923748	T-47D	breast:	n/a	chr20:21923589-21923598 chr20:21923589-21923599
47	GATA3	chr20:21923196-21923806	MCF-7	breast:	n/a	chr20:21923589-21923598 chr20:21923589-21923599 chr20:21923281-21923290
48	GATA3	chr20:21923296-21923769	T-47D	breast:	n/a	chr20:21923589-21923598 chr20:21923589-21923599
49	JUND	chr20:21917313-21917649	H1-hESC	embryonic stem cell:	n/a	chr20:21917475-21917482
50	JUND	chr20:21938003-21938106	HepG2	liver:	n/a	chr20:21938064-21938075

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:21949929..21950596-chr3:175390640..175391331,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX1-2	chr20:21928285-21928340	XLOC_013481
2	lnc-PAX1-2	chr20:21950909-21951421	XLOC_013481

Variant related genes	Relation type
ENSG00000238034	TF binding region

Extended variants
information (count: 649 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2024885	chr20:21917393-21917394	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147593398	chr20:21917483-21917484	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8118702	chr20:21917505-21917506	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8125502	chr20:21917524-21917525	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533621205	chr20:21917530-21917531	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs8118707	chr20:21917535-21917536	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556598371	chr20:21917549-21917550	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8118748	chr20:21917582-21917583	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570229327	chr20:21917587-21917588	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111555512	chr20:21917605-21917606	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs199642240	chr20:21917622-21917623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs8118749	chr20:21917627-21917628	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544757719	chr20:21917679-21917680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560224813	chr20:21917683-21917684	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs189302370	chr20:21917731-21917732	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552260213	chr20:21917750-21917751	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs8118956	chr20:21917782-21917783	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs571821382	chr20:21917786-21917787	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192343453	chr20:21917790-21917791	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs542381722	chr20:21917791-21917792	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560748538	chr20:21917826-21917827	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553682422	chr20:21917827-21917828	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs16983123	chr20:21917846-21917847	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546044771	chr20:21917934-21917935	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184601971	chr20:21917948-21917949	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs575961893	chr20:21917952-21917953	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531461060	chr20:21917977-21917978	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs6113432	chr20:21918047-21918048	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35146855	chr20:21918059-21918060	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146562675	chr20:21918060-21918061	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181993267	chr20:21918062-21918063	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71182321	chr20:21918098-21918099	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185778289	chr20:21918099-21918100	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2328680	chr20:21918106-21918107	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6106428	chr20:21918157-21918158	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547576600	chr20:21918169-21918170	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564475408	chr20:21918179-21918180	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6106429	chr20:21918202-21918203	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2328681	chr20:21918213-21918214	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs6113433	chr20:21918234-21918235	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75845025	chr20:21918242-21918243	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2328682	chr20:21918288-21918289	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs1007169	chr20:21918310-21918311	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549588511	chr20:21918315-21918316	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2208050	chr20:21918427-21918428	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533858045	chr20:21918431-21918432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2328683	chr20:21918447-21918448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs2208051	chr20:21918471-21918472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190170714	chr20:21918555-21918556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539043361	chr20:21918576-21918577	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21904800-21918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:21916600-21917400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr20:21916600-21917600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr20:21916800-21917600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr20:21916800-21920000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr20:21917000-21917400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr20:21917000-21917600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr20:21917000-21917600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr20:21917000-21917800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:21917000-21918600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:21917000-21918600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr20:21917000-21918600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:21917000-21919600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr20:21917200-21917600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr20:21917200-21918000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr20:21917200-21918400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr20:21917200-21919800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:21917400-21917800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:21917400-21917800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr20:21917400-21918000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr20:21917400-21918400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:21917400-21918800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr20:21917600-21917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr20:21917600-21918000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr20:21917600-21918000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr20:21917600-21918000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr20:21917800-21918200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr20:21918000-21918200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr20:21918000-21918400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr20:21918000-21919600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr20:21918000-21919800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr20:21918000-21919800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr20:21918200-21918400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr20:21918200-21918400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr20:21918200-21918600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr20:21918400-21918600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr20:21918400-21919200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr20:21918600-21919000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr20:21918800-21919200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr20:21919000-21919600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr20:21919200-21919600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr20:21919200-21919600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr20:21919600-21919800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr20:21919800-21921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr20:21921400-21922400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr20:21922200-21924600	Enhancers	Colon Smooth Muscle	Colon
47	chr20:21922400-21923800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr20:21923800-21924400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:21924400-21924600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr20:21924600-21925000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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