Variant report

Variant	nsv469654
Chromosome Location	chr13:63783762-63946116
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	chr13:63818314-63818408	HepG2	liver:	n/a	n/a
2	BACH1	chr13:63805105-63805108	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr13:63845846-63845938	HepG2	liver:	n/a	chr13:63845885-63845896 chr13:63845859-63845870
4	CEBPB	chr13:63878657-63878957	HepG2	liver:	n/a	chr13:63878814-63878825
5	CEBPB	chr13:63930210-63930532	HepG2	liver:	n/a	chr13:63930386-63930403 chr13:63930389-63930400
6	CEBPB	chr13:63878639-63878883	Hela-S3	cervix:	n/a	chr13:63878814-63878825
7	CEBPB	chr13:63869759-63870039	IMR90	lung:	n/a	chr13:63869907-63869918 chr13:63869907-63869920
8	CEBPB	chr13:63890177-63890383	H1-hESC	embryonic stem cell:	n/a	chr13:63890293-63890304
9	CEBPB	chr13:63915756-63915823	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr13:63878731-63878920	K562	blood:	n/a	chr13:63878814-63878825
11	CEBPB	chr13:63862840-63863259	IMR90	lung:	n/a	n/a
12	CEBPB	chr13:63945942-63946193	HepG2	liver:	n/a	chr13:63946040-63946051 chr13:63946041-63946052
13	CEBPB	chr13:63876910-63877282	IMR90	lung:	n/a	chr13:63877183-63877196 chr13:63877185-63877194 chr13:63876960-63876973 chr13:63877183-63877194 chr13:63877185-63877194 chr13:63877185-63877194 chr13:63877185-63877194
14	CEBPB	chr13:63878680-63878955	A549	lung:	n/a	chr13:63878814-63878825
15	CEBPB	chr13:63890159-63890458	IMR90	lung:	n/a	chr13:63890293-63890304
16	CEBPB	chr13:63836547-63836805	HepG2	liver:	n/a	chr13:63836652-63836663
17	CEBPB	chr13:63839881-63840177	HepG2	liver:	n/a	n/a
18	CEBPB	chr13:63890189-63890396	HepG2	liver:	n/a	chr13:63890293-63890304
19	CEBPB	chr13:63930261-63930499	A549	lung:	n/a	chr13:63930386-63930403 chr13:63930389-63930400
20	CEBPB	chr13:63930231-63930544	IMR90	lung:	n/a	chr13:63930386-63930403 chr13:63930389-63930400
21	CEBPB	chr13:63878620-63878978	IMR90	lung:	n/a	chr13:63878814-63878825
22	CEBPB	chr13:63874168-63874497	IMR90	lung:	n/a	n/a
23	CEBPB	chr13:63783763-63784090	IMR90	lung:	n/a	n/a
24	CEBPB	chr13:63869741-63870047	HepG2	liver:	n/a	chr13:63869907-63869918 chr13:63869907-63869920
25	CTCF	chr13:63910317-63910344	LNCaP	prostate:	n/a	n/a
26	CTCF	chr13:63844158-63844231	GM20000	blood:	n/a	n/a
27	CTCF	chr13:63829000-63829150	GM12874	blood:	n/a	n/a
28	CTCF	chr13:63787363-63787434	GM13976	blood:	n/a	n/a
29	CTCF	chr13:63845361-63845397	ProgFib	skin:	n/a	n/a
30	CTCF	chr13:63829707-63829728	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr13:63837890-63837922	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr13:63881440-63881590	GM12870	blood:	n/a	n/a
33	CTCF	chr13:63935360-63935510	HVMF	connective:	n/a	n/a
34	CTCF	chr13:63930820-63930970	AG04450	lung:	n/a	n/a
35	CTCF	chr13:63885391-63885427	ProgFib	skin:	n/a	n/a
36	CTCF	chr13:63885200-63885350	Caco-2	colon:	n/a	n/a
37	CTCF	chr13:63937880-63938030	HMEC	breast:	n/a	chr13:63937990-63938008 chr13:63937992-63938013
38	E2F4	chr13:63826599-63826683	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr13:63786637-63786814	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr13:63896289-63896290	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr13:63874191-63874391	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr13:63812329-63812341	GM12878	blood:	n/a	n/a
43	E2F4	chr13:63901334-63901489	MCF10A-Er-Src	breast:	n/a	n/a
44	EP300	chr13:63878689-63878772	Hela-S3	cervix:	n/a	n/a
45	ESR1	chr13:63814113-63814327	ECC-1	luminal epithelium:	n/a	chr13:63814219-63814236 chr13:63814220-63814237
46	FAM48A	chr13:63881281-63881421	GM12878	blood:	n/a	n/a
47	FOS	chr13:63878711-63878994	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr13:63878721-63878973	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr13:63874312-63874426	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr13:63867758-63867903	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120076978..120077828-chr13:63812850..63813372,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-6	chr13:63902193-63902270	XLOC_010640
2	lnc-PCDH20-6	chr13:63901377-63901488	XLOC_010640
3	lnc-PCDH20-6	chr13:63901377-63901488	XLOC_010640
4	lnc-PCDH20-6	chr13:63886242-63886263	XLOC_010640
5	lnc-PCDH20-6	chr13:63902187-63902270	XLOC_010640
6	lnc-PCDH20-5	chr13:63801112-63801189	XLOC_010639
7	lnc-PCDH20-6	chr13:63886242-63886263	XLOC_010640

Variant related genes	Relation type
LINC00376	TF binding region

Extended variants
information (count: 1627 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1627 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147368763	chr13:63783823-63783824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555552438	chr13:63783846-63783847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368367300	chr13:63783859-63783860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs298789	chr13:63783880-63783881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541316585	chr13:63783890-63783891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199525104	chr13:63783915-63783916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139579587	chr13:63783925-63783926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9539675	chr13:63783936-63783937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563347647	chr13:63783966-63783967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73507811	chr13:63784054-63784055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs71200446	chr13:63784062-63784063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57232677	chr13:63784091-63784092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3065644	chr13:63784092-63784093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548841128	chr13:63784138-63784139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs298788	chr13:63784286-63784287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs192419496	chr13:63784338-63784339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184482357	chr13:63784357-63784358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2102261	chr13:63784375-63784376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12865874	chr13:63784407-63784408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551383202	chr13:63784419-63784420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527834259	chr13:63784445-63784446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189006279	chr13:63784493-63784494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537535346	chr13:63784509-63784510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147149969	chr13:63784592-63784593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573772029	chr13:63784610-63784611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139978542	chr13:63784616-63784617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553257233	chr13:63784618-63784619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535110396	chr13:63784656-63784657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9598559	chr13:63784667-63784668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544988783	chr13:63784786-63784787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369056686	chr13:63784794-63784795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372560609	chr13:63784821-63784822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574737229	chr13:63784836-63784837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7338387	chr13:63784848-63784849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575341951	chr13:63784890-63784891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557194894	chr13:63784939-63784940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542703232	chr13:63784940-63784941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs298787	chr13:63784952-63784953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529445197	chr13:63784958-63784959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541264687	chr13:63784964-63784965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9598560	chr13:63784973-63784974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74088044	chr13:63785001-63785002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73507815	chr13:63785003-63785004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369590911	chr13:63785022-63785023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59921031	chr13:63785054-63785055	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374260948	chr13:63785060-63785061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530852235	chr13:63785111-63785112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149864916	chr13:63785159-63785160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573072160	chr13:63785201-63785202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567658518	chr13:63785203-63785204	Weak transcription 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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63783200-63783800	Enhancers	Osteobl	bone
2	chr13:63783200-63784200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:63783600-63788800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:63784200-63784400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:63784200-63784800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:63784600-63785800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:63784800-63785600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:63785600-63785800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr13:63787200-63787400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:63787400-63787800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr13:63788800-63789400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr13:63789400-63795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:63789600-63790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:63790000-63794800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:63792800-63793400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr13:63793000-63793600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:63793200-63793400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:63793400-63794000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr13:63793400-63795000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr13:63793600-63794800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr13:63794000-63794800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr13:63794000-63795000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:63794000-63796600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr13:63794200-63795600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:63794800-63795000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr13:63794800-63796000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:63794800-63796600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr13:63794800-63796600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr13:63795000-63795600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr13:63795000-63795800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr13:63795000-63796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr13:63795000-63796600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr13:63795000-63796600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:63795600-63795800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr13:63795600-63796000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr13:63795800-63796400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr13:63796000-63796400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr13:63796400-63796600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr13:63797800-63799000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:63799000-63801400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:63801400-63802200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:63810800-63811200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:63810800-63813200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:63811200-63812400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:63812400-63813000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:63829800-63830400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:63831200-63832800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:63853000-63853200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:63853800-63854000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:63861400-63861800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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