Variant report

Variant	nsv960810
Chromosome Location	chr19:21138740-21148557
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	ATF1	chr19:21147595-21147600	K562	blood:	n/a	n/a
2	CTCF	chr19:21147768-21147975	H1-hESC	embryonic stem cell:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
3	CTCF	chr19:21147683-21148028	H1-hESC	embryonic stem cell:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
4	CTCF	chr19:21147800-21147919	GM19238	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
5	CTCF	chr19:21147740-21147890	BJ	skin:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
6	CTCF	chr19:21147700-21147850	SAEC	small airway:	n/a	n/a
7	CTCF	chr19:21147760-21147910	AG09309	skin:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
8	CTCF	chr19:21147820-21147970	HBMEC	blood vessel:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
9	CTCF	chr19:21147740-21147890	GM12873	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
10	CTCF	chr19:21147840-21147990	GM12873	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
11	CTCF	chr19:21147760-21147910	HPAF	blood vessel:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
12	CTCF	chr19:21147720-21147870	HCPEpiC	choroid plexus:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
13	CTCF	chr19:21147780-21147930	GM12874	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
14	CTCF	chr19:21145947-21146102	H1-hESC	embryonic stem cell:	n/a	chr19:21146021-21146039
15	CTCF	chr19:21147820-21147870	Spleen_OC	spleen:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
16	CTCF	chr19:21145988-21146030	Fibrobl	skin:	n/a	n/a
17	CTCF	chr19:21147772-21147941	Fibrobl	skin:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
18	CTCF	chr19:21147773-21147995	K562	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
19	CTCF	chr19:21147760-21147922	K562	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
20	CTCF	chr19:21147655-21148024	H1-hESC	embryonic stem cell:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
21	CTCF	chr19:21147821-21147836	MCF-7	breast:	n/a	n/a
22	CTCF	chr19:21147833-21147954	Kidney_OC	kidney:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
23	CTCF	chr19:21147843-21147858	GM19240	blood:	n/a	n/a
24	CTCF	chr19:21147880-21148030	NHEK	skin:	n/a	n/a
25	CTCF	chr19:21140523-21140583	GM20000	blood:	n/a	n/a
26	CTCF	chr19:21147747-21147872	MCF-7	breast:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
27	CTCF	chr19:21147760-21147910	NHEK	skin:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
28	CTCF	chr19:21147780-21147930	WERI-Rb-1	eye:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
29	CTCF	chr19:21147780-21147930	HEK293	kidney:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
30	CTCF	chr19:21147766-21147905	K562	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
31	CTCF	chr19:21147840-21147990	BE2_C	brain:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
32	CTCF	chr19:21147783-21147919	NHEK	skin:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
33	CTCF	chr19:21147780-21147930	Hela-S3	cervix:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
34	CTCF	chr19:21147800-21147950	GM12866	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
35	CTCF	chr19:21147720-21147870	GM12868	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
36	CTCF	chr19:21147740-21147890	HepG2	liver:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
37	CTCF	chr19:21147580-21147730	NHEK	skin:	n/a	n/a
38	CTCF	chr19:21147782-21147858	MCF-7	breast:	n/a	n/a
39	CTCF	chr19:21147800-21147950	K562	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
40	CTCF	chr19:21147780-21147930	HepG2	liver:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
41	CTCF	chr19:21147760-21147910	WERI-Rb-1	eye:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
42	CTCF	chr19:21147801-21147820	MCF-7	breast:	n/a	n/a
43	CTCF	chr19:21147718-21147726	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:21147851-21147913	GM13976	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
45	CTCF	chr19:21147720-21147870	HEK293	kidney:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
46	CTCF	chr19:21147761-21147932	K562	blood:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
47	CTCF	chr19:21147782-21147891	MCF-7	breast:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
48	CTCF	chr19:21147780-21147930	HMEC	breast:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
49	CTCF	chr19:21147797-21147919	HepG2	liver:	n/a	chr19:21147851-21147869 chr19:21147853-21147866
50	CTCF	chr19:21147711-21147827	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000269147	TF binding region
KRT18P40	TF binding region

Extended variants
information (count: 222 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573373376	chr19:21139196-21139197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545634280	chr19:21139227-21139228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs575357343	chr19:21139244-21139245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565347256	chr19:21139295-21139296	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs527926378	chr19:21139301-21139302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs189264345	chr19:21139337-21139338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561395250	chr19:21139380-21139381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs141099198	chr19:21139424-21139425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373062123	chr19:21139439-21139440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530184766	chr19:21139447-21139448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs550222190	chr19:21139460-21139461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs142346794	chr19:21140582-21140583	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs576145727	chr19:21143402-21143403	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs73007376	chr19:21143431-21143432	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558647561	chr19:21143467-21143468	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs572032214	chr19:21143474-21143475	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs540641715	chr19:21143520-21143521	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs190250738	chr19:21143535-21143536	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs377607323	chr19:21143541-21143542	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs193263701	chr19:21143591-21143592	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs534247820	chr19:21143592-21143593	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs35462458	chr19:21143598-21143599	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs35506500	chr19:21143606-21143607	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs59841381	chr19:21143625-21143626	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs56004027	chr19:21143653-21143654	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150985999	chr19:21144025-21144026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540974843	chr19:21144039-21144040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59633955	chr19:21144056-21144057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534098388	chr19:21144088-21144089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184125873	chr19:21144090-21144091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543009261	chr19:21144092-21144093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574131896	chr19:21144105-21144106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188308282	chr19:21144115-21144116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576645330	chr19:21144121-21144122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs55840212	chr19:21144132-21144133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536965056	chr19:21144133-21144134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56373736	chr19:21144143-21144144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs56170000	chr19:21144147-21144148	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs144326195	chr19:21144156-21144157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181137596	chr19:21144178-21144179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530145213	chr19:21144209-21144210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549892982	chr19:21144263-21144264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545457151	chr19:21144273-21144274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147762030	chr19:21144322-21144323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532278606	chr19:21144341-21144342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374664766	chr19:21144352-21144353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185581479	chr19:21144353-21144354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534502532	chr19:21144385-21144386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554294271	chr19:21144395-21144396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567790994	chr19:21144397-21144398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	20967226	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21144000-21144200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:21144200-21147600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:21145200-21146200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:21147600-21147800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:21147600-21147800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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