Variant report

Variant	nsv455922
Chromosome Location	chr13:66703710-66798923
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	chr13:66713473-66713809	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:66784968-66784973	HepG2	liver:	n/a	n/a
3	ATF2	chr13:66798630-66799137	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr13:66712423-66712799	GM12878	blood:	n/a	n/a
5	BATF	chr13:66712420-66712936	GM12878	blood:	n/a	n/a
6	BATF	chr13:66712465-66712951	GM12878	blood:	n/a	n/a
7	BCL11A	chr13:66712423-66713013	GM12878	blood:	n/a	chr13:66712844-66712853
8	BCL11A	chr13:66712457-66712949	GM12878	blood:	n/a	chr13:66712844-66712853
9	BCL11A	chr13:66798709-66799125	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL11A	chr13:66798756-66799093	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCLAF1	chr13:66712465-66712857	GM12878	blood:	n/a	chr13:66712844-66712853
12	BHLHE40	chr13:66712457-66712998	GM12878	blood:	n/a	n/a
13	BHLHE40	chr13:66739043-66739104	K562	blood:	n/a	n/a
14	BRCA1	chr13:66712793-66712993	GM12878	blood:	n/a	n/a
15	CBX3	chr13:66784784-66785224	HCT-116	colon:	n/a	n/a
16	CBX3	chr13:66784811-66785347	HCT-116	colon:	n/a	n/a
17	CEBPB	chr13:66797170-66797323	A549	lung:	n/a	n/a
18	CEBPB	chr13:66711926-66712245	A549	lung:	n/a	chr13:66712095-66712104 chr13:66712094-66712105 chr13:66712095-66712104
19	CEBPB	chr13:66761567-66761739	HepG2	liver:	n/a	chr13:66761619-66761630 chr13:66761695-66761706 chr13:66761695-66761706 chr13:66761619-66761632 chr13:66761620-66761631
20	CEBPB	chr13:66784768-66785232	IMR90	lung:	n/a	n/a
21	CEBPB	chr13:66730739-66730923	K562	blood:	n/a	chr13:66730790-66730803 chr13:66730790-66730803 chr13:66730790-66730801
22	CEBPB	chr13:66711915-66712258	IMR90	lung:	n/a	chr13:66712095-66712104 chr13:66712094-66712105 chr13:66712095-66712104
23	CEBPB	chr13:66763347-66763581	A549	lung:	n/a	chr13:66763421-66763432
24	CEBPB	chr13:66763335-66763507	HepG2	liver:	n/a	chr13:66763421-66763432
25	CEBPB	chr13:66711932-66712246	HepG2	liver:	n/a	chr13:66712095-66712104 chr13:66712094-66712105 chr13:66712095-66712104
26	CEBPB	chr13:66730664-66730902	IMR90	lung:	n/a	chr13:66730790-66730803 chr13:66730790-66730803 chr13:66730790-66730801
27	CEBPB	chr13:66725831-66726069	A549	lung:	n/a	n/a
28	CEBPB	chr13:66725833-66726111	HepG2	liver:	n/a	n/a
29	CEBPB	chr13:66784693-66785274	HCT-116	colon:	n/a	n/a
30	CEBPB	chr13:66798751-66799318	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr13:66784870-66785094	A549	lung:	n/a	n/a
32	CEBPB	chr13:66761526-66761756	A549	lung:	n/a	chr13:66761619-66761630 chr13:66761695-66761706 chr13:66761695-66761706 chr13:66761619-66761632 chr13:66761620-66761631
33	CHD1	chr13:66712584-66712732	GM12878	blood:	n/a	n/a
34	CHD2	chr13:66712385-66713039	GM12878	blood:	n/a	n/a
35	CHD2	chr13:66798730-66799172	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr13:66715195-66715197	GM12878	blood:	n/a	n/a
37	CTCF	chr13:66774736-66775052	IMR90	lung:	n/a	n/a
38	CTCF	chr13:66774852-66774931	K562	blood:	n/a	n/a
39	CTCF	chr13:66774840-66774990	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr13:66774740-66774890	HFF	foreskin:	n/a	n/a
41	CTCF	chr13:66774780-66774930	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr13:66774740-66774890	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr13:66796971-66797004	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr13:66774820-66774970	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr13:66774800-66774950	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr13:66778720-66778870	GM12878	blood:	n/a	n/a
47	CTCF	chr13:66774803-66774986	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr13:66719895-66719954	LNCaP	prostate:	n/a	n/a
49	CTCF	chr13:66736466-66736597	GM20000	blood:	n/a	n/a
50	CTCF	chr13:66750623-66750658	Pancreas_OC	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:66782802..66785217-chr13:66787154..66788780,2	MCF-7	breast:
2	chr13:66725373..66727381-chr13:66728791..66730521,2	K562	blood:
3	chr13:66725373..66727381-chr13:66728791..66730521,2	K562	blood:
4	chr13:66782802..66785217-chr13:66787154..66788780,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH9-1	chr13:66715500-66715905	ENSG00000250631
2	lnc-PCDH9-1	chr13:66718649-66718753	ENSG00000250631

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4704-3p	chr13:66792428-66792449	MIMAT0019804
hsa-miR-4704-5p	chr13:66792391-66792412	MIMAT0019803

Variant related genes	Relation type
MIR4704	TF binding region

Extended variants
information (count: 1595 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1595 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34876584	chr13:66711623-66711624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112623937	chr13:66711721-66711722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74471382	chr13:66711725-66711726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543906005	chr13:66711768-66711769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556357209	chr13:66711782-66711783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560648934	chr13:66711893-66711894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529699405	chr13:66711947-66711948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554381064	chr13:66711962-66711963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566261043	chr13:66712039-66712040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115121621	chr13:66712068-66712069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117001252	chr13:66712092-66712093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188173588	chr13:66712099-66712100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146864665	chr13:66712100-66712101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369362166	chr13:66712112-66712113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181948154	chr13:66712180-66712181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139757664	chr13:66712204-66712205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371416300	chr13:66712214-66712215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114510487	chr13:66712242-66712243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146419040	chr13:66712249-66712250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554160212	chr13:66712269-66712270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577131021	chr13:66712282-66712283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116718572	chr13:66712302-66712303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556393888	chr13:66712304-66712305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79684650	chr13:66712310-66712311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542012438	chr13:66712334-66712335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77637249	chr13:66712366-66712367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543132822	chr13:66712421-66712422	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574454349	chr13:66712447-66712448	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539921384	chr13:66712448-66712449	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144112974	chr13:66712472-66712473	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187469084	chr13:66712474-66712475	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17489276	chr13:66712478-66712479	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552500289	chr13:66712523-66712524	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562768184	chr13:66712528-66712529	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140738093	chr13:66712556-66712557	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548389088	chr13:66712574-66712575	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543799290	chr13:66712600-66712601	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568487460	chr13:66712619-66712620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539501789	chr13:66712629-66712630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376357334	chr13:66712706-66712707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4884651	chr13:66712732-66712733	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs374212562	chr13:66712738-66712739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570828478	chr13:66712742-66712743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115260715	chr13:66712751-66712752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556483013	chr13:66712772-66712773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9529023	chr13:66712790-66712791	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4884652	chr13:66712815-66712816	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560261315	chr13:66712817-66712818	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7329287	chr13:66712828-66712829	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs572511601	chr13:66712850-66712851	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66711600-66712400	Enhancers	Primary B cells from cord blood	blood
2	chr13:66711600-66712400	Enhancers	GM12878-XiMat	blood
3	chr13:66712200-66715600	Enhancers	Primary B cells from peripheral blood	blood
4	chr13:66712400-66712600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr13:66712400-66713400	Weak transcription	GM12878-XiMat	blood
6	chr13:66712600-66712800	Enhancers	Primary B cells from cord blood	blood
7	chr13:66712800-66713000	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr13:66712800-66713200	Enhancers	Gastric	stomach
9	chr13:66712800-66714200	Enhancers	HepG2	liver
10	chr13:66713000-66714600	Enhancers	Hela-S3	cervix
11	chr13:66713000-66715400	Enhancers	Primary B cells from cord blood	blood
12	chr13:66713200-66714400	Weak transcription	Gastric	stomach
13	chr13:66713400-66714600	Enhancers	GM12878-XiMat	blood
14	chr13:66714000-66714600	Enhancers	Fetal Kidney	kidney
15	chr13:66714600-66714800	Enhancers	Gastric	stomach
16	chr13:66714600-66715000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr13:66714600-66715400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:66714800-66717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:66715000-66715400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:66715000-66715400	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr13:66717000-66719400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr13:66719200-66719800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr13:66719400-66720400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:66720400-66720800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr13:66720400-66720800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr13:66720800-66721000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr13:66720800-66721400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:66721000-66722600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr13:66721200-66721600	Enhancers	Hela-S3	cervix
30	chr13:66721200-66722000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr13:66728200-66731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:66728400-66728800	Enhancers	A549	lung
33	chr13:66728400-66729800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr13:66728600-66729800	Enhancers	HUVEC	blood vessel
35	chr13:66729200-66729600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:66729200-66729600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr13:66729200-66729600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:66729200-66729600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:66729200-66729600	Enhancers	HSMM	muscle
40	chr13:66729200-66729800	Enhancers	Dnd41	blood
41	chr13:66729200-66731000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:66729200-66731000	Enhancers	Osteobl	bone
43	chr13:66729600-66730600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:66729800-66730200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr13:66730200-66730800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr13:66730800-66731000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:66733400-66733800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr13:66733600-66734000	Enhancers	Primary B cells from peripheral blood	blood
49	chr13:66733800-66737400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr13:66736400-66737600	Enhancers	Dnd41	blood

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