Variant report

Variant	nsv832630
Chromosome Location	chr13:62651865-62811428
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	ARID3A	chr13:62693878-62694096	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:62773490-62773698	HepG2	liver:	n/a	n/a
3	ATF2	chr13:62783484-62784127	GM12878	blood:	n/a	n/a
4	ATF2	chr13:62783598-62784160	GM12878	blood:	n/a	n/a
5	BACH1	chr13:62684254-62684562	K562	blood:	n/a	n/a
6	BACH1	chr13:62684165-62684600	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr13:62783637-62783935	GM12878	blood:	n/a	n/a
8	BATF	chr13:62782112-62782384	GM12878	blood:	n/a	n/a
9	BCL11A	chr13:62783559-62784083	GM12878	blood:	n/a	n/a
10	BCL11A	chr13:62783637-62783901	GM12878	blood:	n/a	n/a
11	BCLAF1	chr13:62783584-62784098	GM12878	blood:	n/a	n/a
12	BHLHE40	chr13:62783623-62784081	GM12878	blood:	n/a	n/a
13	BHLHE40	chr13:62781614-62781688	GM12878	blood:	n/a	n/a
14	CEBPB	chr13:62784218-62784418	K562	blood:	n/a	chr13:62784370-62784381 chr13:62784356-62784369 chr13:62784356-62784367 chr13:62784356-62784369
15	CEBPB	chr13:62692270-62692575	H1-hESC	embryonic stem cell:	n/a	chr13:62692416-62692427
16	CEBPB	chr13:62698445-62698688	HepG2	liver:	n/a	n/a
17	CEBPB	chr13:62706388-62706725	HepG2	liver:	n/a	chr13:62706544-62706555
18	CEBPB	chr13:62745818-62746179	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr13:62706395-62706733	IMR90	lung:	n/a	chr13:62706544-62706555
20	CEBPB	chr13:62783490-62784154	GM12878	blood:	n/a	n/a
21	CEBPB	chr13:62692249-62692450	HepG2	liver:	n/a	chr13:62692416-62692427
22	CEBPB	chr13:62768075-62768798	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr13:62667392-62667746	HepG2	liver:	n/a	chr13:62667563-62667576 chr13:62667564-62667575 chr13:62667563-62667574 chr13:62667563-62667576
24	CEBPB	chr13:62698461-62698712	IMR90	lung:	n/a	n/a
25	CEBPB	chr13:62667470-62667728	A549	lung:	n/a	chr13:62667563-62667576 chr13:62667564-62667575 chr13:62667563-62667574 chr13:62667563-62667576
26	CEBPB	chr13:62766011-62766572	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr13:62767210-62767406	HepG2	liver:	n/a	chr13:62767282-62767293 chr13:62767280-62767291 chr13:62767282-62767293 chr13:62767221-62767234 chr13:62767280-62767293
28	CEBPB	chr13:62706429-62706715	H1-hESC	embryonic stem cell:	n/a	chr13:62706544-62706555
29	CEBPB	chr13:62667407-62667744	IMR90	lung:	n/a	chr13:62667563-62667576 chr13:62667564-62667575 chr13:62667563-62667574 chr13:62667563-62667576
30	CEBPB	chr13:62667407-62667625	K562	blood:	n/a	chr13:62667563-62667576 chr13:62667564-62667575 chr13:62667563-62667574 chr13:62667563-62667576
31	CEBPB	chr13:62706502-62706622	K562	blood:	n/a	chr13:62706544-62706555
32	CEBPB	chr13:62692336-62692556	A549	lung:	n/a	chr13:62692416-62692427
33	CEBPB	chr13:62784246-62784460	HepG2	liver:	n/a	chr13:62784370-62784381 chr13:62784356-62784369 chr13:62784356-62784367 chr13:62784356-62784369
34	CEBPB	chr13:62698492-62698692	A549	lung:	n/a	n/a
35	CEBPB	chr13:62677940-62678189	HepG2	liver:	n/a	chr13:62678066-62678077
36	CHD1	chr13:62783582-62784020	GM12878	blood:	n/a	n/a
37	CHD2	chr13:62783476-62784129	GM12878	blood:	n/a	n/a
38	CREB1	chr13:62783299-62784150	GM12878	blood:	n/a	chr13:62783676-62783689
39	CTCF	chr13:62693940-62694090	AG04450	lung:	n/a	chr13:62694057-62694078
40	CTCF	chr13:62786539-62786662	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr13:62693920-62694070	HMF	breast:	n/a	n/a
42	CTCF	chr13:62693960-62694110	NB4	blood:	n/a	chr13:62694057-62694078
43	CTCF	chr13:62786480-62786750	GM12869	blood:	n/a	n/a
44	CTCF	chr13:62723124-62723140	GM10266	blood:	n/a	n/a
45	CTCF	chr13:62693980-62694130	SK-N-SH_RA	brain:	n/a	chr13:62694057-62694078
46	CTCF	chr13:62693960-62694110	HCM	heart:	n/a	chr13:62694057-62694078
47	CTCF	chr13:62693900-62694050	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr13:62693900-62694050	AG04450	lung:	n/a	n/a
49	CTCF	chr13:62693980-62694130	HCPEpiC	choroid plexus:	n/a	chr13:62694057-62694078
50	CTCF	chr13:62694000-62694150	AG09319	gingival:	n/a	chr13:62694057-62694078

No.	Distal block	Cell Line	Cell type
1	chr13:62660162..62662545-chr13:62664101..62665603,2	K562	blood:
2	chr13:62805513..62806033-chr5:25238045..25239045,2	MCF-7	breast:
3	chr13:62660162..62662545-chr13:62664101..62665603,2	K562	blood:
4	chr13:62693637..62694595-chr13:62932414..62933036,3	MCF-7	breast:
5	chr13:62693652..62694547-chr13:64030161..64030676,2	MCF-7	breast:
6	chr13:62693885..62694482-chr13:62894021..62894947,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-14	chr13:62655235-62655462	NONHSAT034139
2	lnc-AL445989.1-7	chr13:62801767-62801865	XLOC_010407
3	lnc-AL445989.1-7	chr13:62798230-62798327	XLOC_010407
4	lnc-AL445989.1-7	chr13:62798240-62798327	XLOC_010407
5	lnc-PCDH20-14	chr13:62666624-62666665	NONHSAT034139
6	lnc-AL445989.1-7	chr13:62801766-62801865	NONHSAT034140
7	lnc-AL445989.1-7	chr13:62807278-62807564	XLOC_010407
8	lnc-AL445989.1-7	chr13:62807277-62807564	NONHSAT034140
9	lnc-AL445989.1-7	chr13:62801767-62801865	XLOC_010407
10	lnc-AL445989.1-7	chr13:62798229-62798327	NONHSAT034140
11	lnc-PCDH20-14	chr13:62699113-62699190	NONHSAT034139

Variant related genes	Relation type
LINC01075	TF binding region

Extended variants
information (count: 2257 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2257 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575731874	chr13:62652051-62652052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs542734820	chr13:62652061-62652062	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs79629475	chr13:62652078-62652079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7322032	chr13:62652084-62652085	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540390423	chr13:62652120-62652121	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs565241544	chr13:62652149-62652150	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532693310	chr13:62652166-62652167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114769071	chr13:62652168-62652169	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181468180	chr13:62652193-62652194	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187067984	chr13:62652205-62652206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548002329	chr13:62652237-62652238	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs79939294	chr13:62652285-62652286	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77829914	chr13:62652306-62652307	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558736330	chr13:62652329-62652330	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543091760	chr13:62652332-62652333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570804457	chr13:62652344-62652345	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537738477	chr13:62652348-62652349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs9670976	chr13:62655236-62655237	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550694995	chr13:62655278-62655279	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs550268867	chr13:62655346-62655347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs568527395	chr13:62655356-62655357	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs536061780	chr13:62655374-62655375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs548010107	chr13:62655404-62655405	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs189446946	chr13:62655434-62655435	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs533425843	chr13:62655437-62655438	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs77010948	chr13:62655453-62655454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs181467313	chr13:62655460-62655461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs145038664	chr13:62659407-62659408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117583618	chr13:62659423-62659424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77373650	chr13:62659428-62659429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149057030	chr13:62659548-62659549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187541029	chr13:62659560-62659561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116716881	chr13:62659568-62659569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372912100	chr13:62659598-62659599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143097757	chr13:62659616-62659617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531620367	chr13:62659652-62659653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193272102	chr13:62659676-62659677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550728149	chr13:62659687-62659688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568933179	chr13:62659691-62659692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148187916	chr13:62659695-62659696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554656003	chr13:62659701-62659702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566583218	chr13:62659741-62659742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184176469	chr13:62659760-62659761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556151499	chr13:62659770-62659771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116300604	chr13:62659778-62659779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577499402	chr13:62659780-62659781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113550135	chr13:62659838-62659839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188013689	chr13:62659859-62659860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556865139	chr13:62659882-62659883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574497548	chr13:62659889-62659890	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62652000-62652400	Active TSS	Fetal Brain Male	brain
2	chr13:62659400-62660200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:62659400-62660400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr13:62659400-62660400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr13:62659400-62660400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:62659400-62660400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:62659400-62660400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:62659400-62660400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:62659600-62660200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:62659600-62660400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:62659600-62660400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:62659600-62660400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:62659800-62660200	Enhancers	Brain Germinal Matrix	brain
14	chr13:62660000-62660400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:62660000-62660600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr13:62664400-62664800	Enhancers	Fetal Muscle Leg	muscle
17	chr13:62671400-62671600	Enhancers	Adipose Nuclei	Adipose
18	chr13:62672200-62672400	Enhancers	Adipose Nuclei	Adipose
19	chr13:62674400-62674600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:62674600-62689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:62680400-62680600	Enhancers	Pancreas	Pancrea
22	chr13:62684200-62684600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr13:62684200-62684800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr13:62687200-62687800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:62689400-62691200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:62690200-62690800	Enhancers	Fetal Kidney	kidney
27	chr13:62692600-62693000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:62703200-62704000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:62703400-62705000	Enhancers	Adipose Nuclei	Adipose
30	chr13:62703400-62706000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:62703600-62704600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:62703600-62704800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr13:62704000-62704200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:62704200-62704600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:62704200-62705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:62705200-62708000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:62711200-62713600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:62712000-62712200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:62712000-62712400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:62712000-62712400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr13:62712000-62712400	Enhancers	Fetal Muscle Trunk	muscle
42	chr13:62712200-62712600	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr13:62723600-62724400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:62725600-62726600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:62727200-62727600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:62730600-62731800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:62741000-62748200	Weak transcription	Gastric	stomach
48	chr13:62742000-62742200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr13:62742200-62743000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:62743000-62743400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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