Variant report

Variant	nsv1052785
Chromosome Location	chr13:64329019-64388259
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	CHD2	chr13:64385983-64386021	K562	blood:	n/a	n/a
2	CTCF	chr13:64343244-64343298	GM13976	blood:	n/a	n/a
3	CTCF	chr13:64356700-64356850	HepG2	liver:	n/a	n/a
4	CTCF	chr13:64374170-64374211	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr13:64388087-64388090	MCF-7	breast:	n/a	n/a
6	CTCF	chr13:64388066-64388097	MCF-7	breast:	n/a	n/a
7	CTCF	chr13:64338485-64338489	ProgFib	skin:	n/a	n/a
8	CTCF	chr13:64388012-64388076	MCF-7	breast:	n/a	n/a
9	CTCF	chr13:64330314-64330384	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr13:64338496-64338540	ProgFib	skin:	n/a	n/a
11	CTCF	chr13:64377845-64377936	GM13976	blood:	n/a	n/a
12	CTCF	chr13:64339091-64339163	Lung_OC	lung:	n/a	n/a
13	CTCF	chr13:64338648-64338715	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr13:64388076-64388141	Fibrobl	skin:	n/a	n/a
15	CTCF	chr13:64334444-64334532	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr13:64343509-64343605	GM20000	blood:	n/a	n/a
17	CTCF	chr13:64377920-64378070	GM12869	blood:	n/a	n/a
18	CTCF	chr13:64338203-64338280	GM13976	blood:	n/a	n/a
19	CTCF	chr13:64384593-64384675	Lung_OC	lung:	n/a	n/a
20	CTCF	chr13:64388099-64388105	MCF-7	breast:	n/a	n/a
21	CTCF	chr13:64330862-64330927	Medullo	brain:	n/a	n/a
22	CTCF	chr13:64362185-64362247	Kidney_OC	kidney:	n/a	n/a
23	FOS	chr13:64348377-64348628	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr13:64348405-64348638	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL2	chr13:64365275-64365631	HepG2	liver:	n/a	chr13:64365418-64365427
26	FOSL2	chr13:64365252-64365586	HepG2	liver:	n/a	chr13:64365418-64365427
27	FOXA1	chr13:64356179-64356589	HepG2	liver:	n/a	n/a
28	FOXA1	chr13:64356194-64356570	HepG2	liver:	n/a	n/a
29	FOXA1	chr13:64365056-64365603	HepG2	liver:	n/a	n/a
30	FOXA1	chr13:64365081-64365515	HepG2	liver:	n/a	n/a
31	FOXA1	chr13:64356157-64356596	HepG2	liver:	n/a	n/a
32	FOXA1	chr13:64356172-64356471	HepG2	liver:	n/a	n/a
33	FOXA2	chr13:64356272-64356462	HepG2	liver:	n/a	n/a
34	JUND	chr13:64365345-64365526	HepG2	liver:	n/a	chr13:64365418-64365427
35	JUND	chr13:64366371-64366458	HepG2	liver:	n/a	chr13:64366423-64366432 chr13:64366424-64366431 chr13:64366421-64366433 chr13:64366423-64366431 chr13:64366421-64366432 chr13:64366422-64366431
36	MAFF	chr13:64343748-64344062	HepG2	liver:	n/a	chr13:64343896-64343914
37	MAFK	chr13:64343729-64344078	HepG2	liver:	n/a	chr13:64343898-64343909 chr13:64343899-64343910 chr13:64343898-64343909 chr13:64343898-64343913 chr13:64343897-64343911 chr13:64343898-64343914
38	MAFK	chr13:64343804-64344035	IMR90	lung:	n/a	chr13:64343898-64343909 chr13:64343899-64343910 chr13:64343898-64343909 chr13:64343898-64343913 chr13:64343897-64343911 chr13:64343898-64343914
39	MAFK	chr13:64343746-64344023	HepG2	liver:	n/a	chr13:64343898-64343909 chr13:64343899-64343910 chr13:64343898-64343909 chr13:64343898-64343913 chr13:64343897-64343911 chr13:64343898-64343914
40	MAFK	chr13:64345500-64345599	HepG2	liver:	n/a	chr13:64345522-64345533 chr13:64345522-64345538 chr13:64345523-64345534
41	MAFK	chr13:64343883-64343983	H1-hESC	embryonic stem cell:	n/a	chr13:64343898-64343909 chr13:64343899-64343910 chr13:64343898-64343909 chr13:64343898-64343913 chr13:64343897-64343911 chr13:64343898-64343914
42	MAFK	chr13:64357602-64357677	HepG2	liver:	n/a	chr13:64357602-64357616
43	MYC	chr13:64348414-64348657	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr13:64388017-64388123	MCF-7	breast:	n/a	n/a
45	MYC	chr13:64340855-64340904	K562	blood:	n/a	n/a
46	MYC	chr13:64387981-64388168	MCF-7	breast:	n/a	n/a
47	MYC	chr13:64343830-64343950	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr13:64388059-64388131	MCF-7	breast:	n/a	n/a
49	MYC	chr13:64387999-64388196	MCF-7	breast:	n/a	n/a
50	MYC	chr13:64357292-64357492	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:64385881-64385931	AG04450	lung:	fetal
2	chr13:64385881-64385931	AG04450	lung:	fetal
3	chr13:64386020-64386070	SKMC	muscle:	n/a
4	chr13:64386291-64386341	Hepatocyte	liver:	n/a
5	chr13:64385720-64385770	AG09309	skin:	n/a
6	chr13:64386020-64386070	HEK293	kidney:	embryo
7	chr13:64385881-64385931	MCF10A-Er-Src	breast:	n/a
8	chr13:64385881-64385931	Jurkat	blood:	n/a
9	chr13:64385720-64385770	HMEC	breast:	n/a
10	chr13:64386291-64386341	T-47D	breast:	n/a
11	chr13:64388106-64388156	H1-hESC	embryonic stem cell:	embryo
12	chr13:64382075-64382125	K562	blood:	n/a
13	chr13:64386291-64386341	ECC-1	luminal epithelium:	n/a
14	chr13:64382075-64382125	ECC-1	luminal epithelium:	n/a
15	chr13:64386020-64386070	NHDF-neo	bronchial:	n/a
16	chr13:64385720-64385770	AoSMC	blood vessel:	n/a
17	chr13:64388106-64388156	HMEC	breast:	n/a
18	chr13:64384119-64384169	CMK	blood:	n/a
19	chr13:64386020-64386070	NHBE	bronchial:	n/a
20	chr13:64388106-64388156	RPTEC	kidney:	n/a
21	chr13:64384119-64384169	BJ	skin:	n/a
22	chr13:64382075-64382125	SAEC	small airway:	n/a
23	chr13:64382075-64382125	HCM	heart:	n/a
24	chr13:64386020-64386070	SAEC	small airway:	n/a
25	chr13:64382075-64382125	RPTEC	kidney:	n/a
26	chr13:64382075-64382125	HEEpiC	esophagus:	n/a
27	chr13:64385720-64385770	HAEpiC	amniotic membrane:	n/a
28	chr13:64385881-64385931	K562	blood:	n/a
29	chr13:64385720-64385770	GM12892	blood:	n/a
30	chr13:64382075-64382125	Hepatocyte	liver:	n/a
31	chr13:64386291-64386341	NHDF-neo	bronchial:	n/a
32	chr13:64385881-64385931	GM12891	blood:	n/a
33	chr13:64385881-64385931	HRCEpiC	kidney:	n/a
34	chr13:64385881-64385931	HEK293	kidney:	embryo
35	chr13:64386020-64386070	GM12892	blood:	n/a
36	chr13:64382075-64382125	BJ	skin:	n/a
37	chr13:64382075-64382125	A549	lung:	n/a
38	chr13:64385881-64385931	PFSK-1	brain:	n/a
39	chr13:64382075-64382125	SK-N-SH_RA	brain:	n/a
40	chr13:64382075-64382125	GM12878	blood:	n/a
41	chr13:64385881-64385931	CMK	blood:	n/a
42	chr13:64386020-64386070	PANC-1	pancreas:	n/a
43	chr13:64385881-64385931	H1-hESC	embryonic stem cell:	embryo
44	chr13:64385720-64385770	CMK	blood:	n/a
45	chr13:64382075-64382125	GM06990	blood:	n/a
46	chr13:64385881-64385931	HL-60	blood:	n/a
47	chr13:64388106-64388156	SK-N-SH	brain:	n/a
48	chr13:64386020-64386070	AoSMC	blood vessel:	n/a
49	chr13:64385881-64385931	IMR90	lung:	fetal
50	chr13:64385881-64385931	GM19239	blood:	n/a

Variant related genes	Relation type
RNU6-81P	TF binding region
PPP1R2P10	TF binding region
RNU6-81P	CpG island
PPP1R2P10	CpG island

Extended variants
information (count: 172 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9564106	chr13:64347431-64347432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538567018	chr13:64347434-64347435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557213231	chr13:64347439-64347440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74090257	chr13:64347533-64347534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535825286	chr13:64347567-64347568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550545831	chr13:64347613-64347614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554282042	chr13:64347645-64347646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143513652	chr13:64347677-64347678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192288794	chr13:64347748-64347749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12864852	chr13:64347789-64347790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114696459	chr13:64347802-64347803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185094595	chr13:64347805-64347806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140508967	chr13:64347811-64347812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12864850	chr13:64347820-64347821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144169968	chr13:64347856-64347857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545416251	chr13:64347861-64347862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151205991	chr13:64347872-64347873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188823978	chr13:64347876-64347877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530954703	chr13:64347877-64347878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543027450	chr13:64347881-64347882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370821649	chr13:64347882-64347883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561232159	chr13:64347902-64347903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193221880	chr13:64347904-64347905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117384155	chr13:64347995-64347996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12866269	chr13:64347996-64347997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377206704	chr13:64348007-64348008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572525693	chr13:64348076-64348077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572029713	chr13:64348084-64348085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145182241	chr13:64356163-64356164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs570476050	chr13:64356182-64356183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs9539863	chr13:64356201-64356202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs142171074	chr13:64356202-64356203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs574603702	chr13:64356265-64356266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs369716801	chr13:64356273-64356274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs7985606	chr13:64356296-64356297	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572393446	chr13:64356318-64356319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs535794826	chr13:64356366-64356367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs546078654	chr13:64356392-64356393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs184630470	chr13:64356417-64356418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs149598639	chr13:64356424-64356425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs115891678	chr13:64356435-64356436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs555691305	chr13:64356440-64356441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs9564107	chr13:64356468-64356469	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528944919	chr13:64356574-64356575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs144283899	chr13:64356586-64356587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs537646629	chr13:64356708-64356709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs531577685	chr13:64356709-64356710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs117651091	chr13:64356756-64356757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548620462	chr13:64356767-64356768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs568477651	chr13:64356768-64356769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64347400-64348200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:64384200-64386000	Active TSS	HUES6 Cell Line	embryonic stem cell

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