Variant report

Variant	nsv900893
Chromosome Location	chr13:92671868-92748938
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	chr13:92727057-92727252	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:92706389-92707091	HepG2	liver:	n/a	n/a
3	BHLHE40	chr13:92706676-92707043	HepG2	liver:	n/a	n/a
4	CEBPB	chr13:92706727-92707008	HepG2	liver:	n/a	n/a
5	CEBPB	chr13:92726979-92727255	HepG2	liver:	n/a	n/a
6	CEBPB	chr13:92726988-92727265	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr13:92706712-92707049	HepG2	liver:	n/a	n/a
8	CEBPB	chr13:92706699-92707027	HepG2	liver:	n/a	n/a
9	CEBPB	chr13:92713341-92713583	HepG2	liver:	n/a	chr13:92713478-92713491 chr13:92713478-92713489
10	CEBPB	chr13:92706703-92707067	HepG2	liver:	n/a	n/a
11	CEBPB	chr13:92700852-92701110	HepG2	liver:	n/a	chr13:92700942-92700953 chr13:92700942-92700955
12	CEBPD	chr13:92706774-92706956	HepG2	liver:	n/a	n/a
13	CTCF	chr13:92727080-92727230	GM12878	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
14	CTCF	chr13:92727000-92727150	NHEK	skin:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
15	CTCF	chr13:92727057-92727165	K562	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
16	CTCF	chr13:92726980-92727130	NHEK	skin:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
17	CTCF	chr13:92716500-92716650	BE2_C	brain:	n/a	n/a
18	CTCF	chr13:92726980-92727262	Medullo	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
19	CTCF	chr13:92727061-92727143	Fibrobl	skin:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
20	CTCF	chr13:92727020-92727170	GM12872	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
21	CTCF	chr13:92726991-92727229	Gliobla	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
22	CTCF	chr13:92727040-92727190	HA-sp	spinal cord:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
23	CTCF	chr13:92727020-92727170	GM12866	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
24	CTCF	chr13:92727060-92727210	HPF	lung:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
25	CTCF	chr13:92726980-92727130	HEK293	kidney:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
26	CTCF	chr13:92727040-92727190	GM12869	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
27	CTCF	chr13:92727040-92727190	SK-N-SH_RA	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
28	CTCF	chr13:92727060-92727210	HRE	kidney:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
29	CTCF	chr13:92727056-92727161	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
30	CTCF	chr13:92727040-92727190	HCPEpiC	choroid plexus:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
31	CTCF	chr13:92727040-92727190	Caco-2	colon:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
32	CTCF	chr13:92727051-92727156	NHEK	skin:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
33	CTCF	chr13:92717595-92717621	GM20000	blood:	n/a	n/a
34	CTCF	chr13:92727040-92727190	AG04450	lung:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
35	CTCF	chr13:92727000-92727150	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
36	CTCF	chr13:92727013-92727253	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
37	CTCF	chr13:92727060-92727210	HepG2	liver:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
38	CTCF	chr13:92727402-92727429	Medullo	brain:	n/a	n/a
39	CTCF	chr13:92727040-92727190	WERI-Rb-1	eye:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
40	CTCF	chr13:92727040-92727190	HVMF	connective:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
41	CTCF	chr13:92727020-92727170	NB4	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
42	CTCF	chr13:92726990-92727248	LNCaP	prostate:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
43	CTCF	chr13:92716596-92716687	HepG2	liver:	n/a	n/a
44	CTCF	chr13:92719858-92719911	Lung_OC	lung:	n/a	n/a
45	CTCF	chr13:92726540-92726690	NHEK	skin:	n/a	n/a
46	CTCF	chr13:92727040-92727190	HMEC	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
47	CTCF	chr13:92727020-92727170	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
48	CTCF	chr13:92727020-92727170	SK-N-SH_RA	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
49	CTCF	chr13:92727048-92727197	GM13976	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
50	CTCF	chr13:92727021-92727219	GM12878	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119

No.	Distal block	Cell Line	Cell type
1	chr13:92696291..92699011-chr13:92703757..92705620,2	K562	blood:
2	chr13:92696291..92699011-chr13:92703757..92705620,2	K562	blood:
3	chr13:92598658..92599490-chr13:92726652..92727595,3	MCF-7	breast:

Variant related genes	Relation type
RNU4ATAC3P	TF binding region

Extended variants
information (count: 752 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16946937	chr13:92677816-92677817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565467550	chr13:92677822-92677823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534292582	chr13:92677861-92677862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557348576	chr13:92677879-92677880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189942479	chr13:92677885-92677886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557014936	chr13:92677904-92677905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376909792	chr13:92677949-92677950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1536369	chr13:92677965-92677966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528595070	chr13:92677980-92677981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140810742	chr13:92678004-92678005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181712902	chr13:92678020-92678021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1536368	chr13:92678071-92678072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9560901	chr13:92678099-92678100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565281211	chr13:92678177-92678178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530970783	chr13:92678245-92678246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560422656	chr13:92678268-92678269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531230083	chr13:92678298-92678299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544882837	chr13:92678318-92678319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374220427	chr13:92678342-92678343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550900246	chr13:92678368-92678369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561462260	chr13:92678379-92678380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530294411	chr13:92678411-92678412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9523482	chr13:92678433-92678434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546036947	chr13:92678478-92678479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565403615	chr13:92678484-92678485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528183685	chr13:92678488-92678489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550914930	chr13:92678515-92678516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186173403	chr13:92678525-92678526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536680971	chr13:92678564-92678565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61966418	chr13:92678593-92678594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs79730058	chr13:92678599-92678600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191026135	chr13:92678631-92678632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530555227	chr13:92678650-92678651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553211946	chr13:92678654-92678655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200282631	chr13:92678719-92678720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77565916	chr13:92678737-92678738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181922169	chr13:92678743-92678744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539129352	chr13:92678755-92678756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559136812	chr13:92678768-92678769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575696190	chr13:92678769-92678770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550531892	chr13:92678778-92678779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544310052	chr13:92678826-92678827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561600659	chr13:92678868-92678869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185853857	chr13:92678887-92678888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540782005	chr13:92678926-92678927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560317982	chr13:92678981-92678982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116818645	chr13:92679001-92679002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369622923	chr13:92679022-92679023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138642156	chr13:92679039-92679040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564666235	chr13:92679139-92679140	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92677800-92680600	Enhancers	Fetal Lung	lung
2	chr13:92679000-92679400	Enhancers	Adipose Nuclei	Adipose
3	chr13:92679600-92680000	Enhancers	Fetal Heart	heart
4	chr13:92679600-92680200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:92680000-92680200	Enhancers	Gastric	stomach
6	chr13:92680600-92681000	Weak transcription	Fetal Lung	lung
7	chr13:92681000-92681800	Enhancers	Fetal Lung	lung
8	chr13:92681800-92684800	Weak transcription	Fetal Lung	lung
9	chr13:92684800-92685800	Enhancers	Fetal Lung	lung
10	chr13:92685800-92691400	Weak transcription	Fetal Lung	lung
11	chr13:92691400-92692000	Enhancers	Fetal Lung	lung
12	chr13:92696600-92697000	Enhancers	Liver	Liver
13	chr13:92696600-92697400	Enhancers	Fetal Heart	heart
14	chr13:92705400-92707600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr13:92706000-92707600	Enhancers	HepG2	liver
16	chr13:92706400-92706800	Enhancers	Fetal Intestine Small	intestine
17	chr13:92706400-92707600	Enhancers	Liver	Liver
18	chr13:92727000-92727600	Enhancers	Fetal Lung	lung
19	chr13:92734200-92735600	Enhancers	Fetal Heart	heart
20	chr13:92748800-92749800	Enhancers	Hela-S3	cervix

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