Variant report

Variant	nsv962563
Chromosome Location	chr20:22712827-22714521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:22713475-22713662	HepG2	liver:	n/a	n/a
2	CTCF	chr20:22713540-22713690	SAEC	small airway:	n/a	n/a
3	CTCF	chr20:22713480-22713630	GM12864	blood:	n/a	n/a
4	CTCF	chr20:22713460-22713610	NB4	blood:	n/a	n/a
5	CTCF	chr20:22713520-22713652	A549	lung:	n/a	n/a
6	CTCF	chr20:22713440-22713590	GM12878	blood:	n/a	n/a
7	CTCF	chr20:22713460-22713610	HMF	breast:	n/a	n/a
8	CTCF	chr20:22713480-22713630	GM12873	blood:	n/a	n/a
9	CTCF	chr20:22713492-22713692	MCF-7	breast:	n/a	n/a
10	CTCF	chr20:22713440-22713590	Caco-2	colon:	n/a	n/a
11	CTCF	chr20:22713280-22713430	MCF-7	breast:	n/a	n/a
12	CTCF	chr20:22713504-22713668	Gliobla	brain:	n/a	n/a
13	CTCF	chr20:22713499-22713572	GM20000	blood:	n/a	n/a
14	CTCF	chr20:22713401-22713761	K562	blood:	n/a	n/a
15	CTCF	chr20:22713489-22713675	NHEK	skin:	n/a	n/a
16	CTCF	chr20:22713460-22713610	AG04449	skin:	n/a	n/a
17	CTCF	chr20:22713480-22713630	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr20:22713484-22713682	GM12892	blood:	n/a	n/a
19	CTCF	chr20:22713520-22713670	GM12865	blood:	n/a	n/a
20	CTCF	chr20:22713460-22713610	GM12865	blood:	n/a	n/a
21	CTCF	chr20:22713484-22713687	MCF-7	breast:	n/a	n/a
22	CTCF	chr20:22713458-22713655	K562	blood:	n/a	n/a
23	CTCF	chr20:22713383-22713799	K562	blood:	n/a	n/a
24	CTCF	chr20:22713480-22713630	MCF-7	breast:	n/a	n/a
25	CTCF	chr20:22713552-22713624	ProgFib	skin:	n/a	n/a
26	CTCF	chr20:22713477-22713670	HepG2	liver:	n/a	n/a
27	CTCF	chr20:22713466-22713687	MCF-7	breast:	n/a	n/a
28	CTCF	chr20:22713384-22713664	K562	blood:	n/a	n/a
29	CTCF	chr20:22713500-22713650	GM12871	blood:	n/a	n/a
30	CTCF	chr20:22713460-22713610	K562	blood:	n/a	n/a
31	CTCF	chr20:22713460-22713610	GM12870	blood:	n/a	n/a
32	CTCF	chr20:22713479-22713692	MCF-7	breast:	n/a	n/a
33	CTCF	chr20:22713420-22713570	GM12868	blood:	n/a	n/a
34	CTCF	chr20:22713520-22713670	GM12875	blood:	n/a	n/a
35	CTCF	chr20:22713460-22713610	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr20:22713480-22713630	HFF	foreskin:	n/a	n/a
37	CTCF	chr20:22713480-22713630	Caco-2	colon:	n/a	n/a
38	CTCF	chr20:22713500-22713650	A549	lung:	n/a	n/a
39	CTCF	chr20:22713538-22713622	GM19238	blood:	n/a	n/a
40	CTCF	chr20:22713436-22713785	A549	lung:	n/a	n/a
41	CTCF	chr20:22713489-22713663	Fibrobl	skin:	n/a	n/a
42	CTCF	chr20:22713460-22713610	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr20:22713440-22713590	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr20:22713526-22713664	LNCaP	prostate:	n/a	n/a
45	CTCF	chr20:22713519-22713643	GM19240	blood:	n/a	n/a
46	CTCF	chr20:22713460-22713610	GM12864	blood:	n/a	n/a
47	CTCF	chr20:22713460-22713610	GM12866	blood:	n/a	n/a
48	CTCF	chr20:22713540-22713690	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr20:22713496-22713647	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr20:22713469-22713668	LNCaP	prostate:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22710372..22712903-chr20:23336432..23339661,3	MCF-7	breast:
2	chr20:22710759..22713197-chr20:22776694..22778472,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265151	TF binding region
ENSG00000232645	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186531309	chr20:22712828-22712829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs13038520	chr20:22712847-22712848	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546260861	chr20:22712867-22712868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556423584	chr20:22712886-22712887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192348712	chr20:22712948-22712949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544422301	chr20:22712967-22712968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561124201	chr20:22712985-22712986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150570089	chr20:22712986-22712987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540188069	chr20:22713010-22713011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185499122	chr20:22713026-22713027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560079797	chr20:22713088-22713089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79243846	chr20:22713095-22713096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375875727	chr20:22713096-22713097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115047831	chr20:22713147-22713148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62201975	chr20:22713150-22713151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188957211	chr20:22713159-22713160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115900757	chr20:22713181-22713182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368979914	chr20:22713240-22713241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534198697	chr20:22713241-22713242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114592764	chr20:22713252-22713253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4514951	chr20:22713265-22713266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs4603850	chr20:22713297-22713298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556572634	chr20:22713346-22713347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78584100	chr20:22713379-22713380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193090679	chr20:22713383-22713384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544385285	chr20:22713389-22713390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565923512	chr20:22713405-22713406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184665776	chr20:22713407-22713408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188593128	chr20:22713443-22713444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540512220	chr20:22713452-22713453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560233490	chr20:22713456-22713457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4371419	chr20:22713472-22713473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545493900	chr20:22713524-22713525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554743029	chr20:22713536-22713537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562211539	chr20:22713568-22713569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531328191	chr20:22713577-22713578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547907954	chr20:22713581-22713582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576743699	chr20:22713585-22713586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146759740	chr20:22713586-22713587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139468195	chr20:22713626-22713627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548063322	chr20:22713628-22713629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571059784	chr20:22713657-22713658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539779367	chr20:22713658-22713659	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559306252	chr20:22713672-22713673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181163910	chr20:22713743-22713744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55716232	chr20:22713745-22713746	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184238301	chr20:22713751-22713752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577573395	chr20:22713755-22713756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535937511	chr20:22713792-22713793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79587148	chr20:22713840-22713841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22710400-22713600	Weak transcription	Spleen	Spleen
2	chr20:22710600-22715400	Weak transcription	Stomach Mucosa	stomach
3	chr20:22713600-22713800	ZNF genes & repeats	Spleen	Spleen
4	chr20:22713600-22714600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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