Variant report

Variant	nsv900743
Chromosome Location	chr13:86477773-86581867
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	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
3	CEBPB	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
4	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
5	CEBPB	chr13:86504325-86504590	HepG2	liver:	n/a	n/a
6	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
7	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
8	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
9	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
11	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
12	CEBPB	chr13:86571759-86572199	Hela-S3	cervix:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
13	CHD1	chr13:86580317-86580340	GM12878	blood:	n/a	n/a
14	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
15	CTCF	chr13:86544958-86545137	LNCaP	prostate:	n/a	chr13:86545043-86545064
16	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
17	CTCF	chr13:86551060-86551210	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr13:86551055-86551337	GM12878	blood:	n/a	n/a
19	CTCF	chr13:86544989-86545047	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr13:86544960-86545110	HPF	lung:	n/a	chr13:86545043-86545064
21	CTCF	chr13:86545060-86545210	HMEC	breast:	n/a	n/a
22	CTCF	chr13:86544998-86545086	Lung_OC	lung:	n/a	chr13:86545043-86545064
23	CTCF	chr13:86507147-86507184	GM13977	blood:	n/a	n/a
24	CTCF	chr13:86544980-86545130	HEEpiC	esophagus:	n/a	chr13:86545043-86545064
25	CTCF	chr13:86544975-86545091	LNCaP	prostate:	n/a	chr13:86545043-86545064
26	CTCF	chr13:86544980-86545130	HRPEpiC	eye:	n/a	chr13:86545043-86545064
27	CTCF	chr13:86545013-86545077	Pancreas_OC	pancreas:	n/a	chr13:86545043-86545064
28	CTCF	chr13:86544956-86545186	IMR90	lung:	n/a	chr13:86545043-86545064
29	CTCF	chr13:86544993-86545126	Hela-S3	cervix:	n/a	chr13:86545043-86545064
30	CTCF	chr13:86545000-86545150	AG04450	lung:	n/a	chr13:86545043-86545064
31	CTCF	chr13:86545000-86545150	HCM	heart:	n/a	chr13:86545043-86545064
32	CTCF	chr13:86544980-86545130	HMEC	breast:	n/a	chr13:86545043-86545064
33	CTCF	chr13:86544960-86545110	HMF	breast:	n/a	chr13:86545043-86545064
34	CTCF	chr13:86544940-86545090	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
35	CTCF	chr13:86544982-86545086	HUVEC	blood vessel:	n/a	chr13:86545043-86545064
36	CTCF	chr13:86544960-86545110	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
37	CTCF	chr13:86544940-86545090	AG09319	gingival:	n/a	chr13:86545043-86545064
38	CTCF	chr13:86517100-86517250	HRE	kidney:	n/a	n/a
39	CTCF	chr13:86541320-86541470	GM12872	blood:	n/a	n/a
40	CTCF	chr13:86551143-86551216	LNCaP	prostate:	n/a	n/a
41	CTCF	chr13:86544972-86545135	Medullo	brain:	n/a	chr13:86545043-86545064
42	CTCF	chr13:86544960-86545110	HPAF	blood vessel:	n/a	chr13:86545043-86545064
43	CTCF	chr13:86509920-86510070	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr13:86544980-86545130	RPTEC	kidney:	n/a	chr13:86545043-86545064
45	CUX1	chr13:86565561-86565609	GM12878	blood:	n/a	n/a
46	CUX1	chr13:86570223-86570340	GM12878	blood:	n/a	n/a
47	E2F4	chr13:86544900-86545286	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr13:86484952-86484966	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr13:86544168-86544284	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr13:86551080-86551098	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-26	chr13:86575237-86575286	NONHSAT034572
2	lnc-SLITRK5-27	chr13:86543134-86543668	NONHSAT034571

Variant related genes	Relation type
MOB1AP1	TF binding region

Extended variants
information (count: 1798 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1798 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530893168	chr13:86479608-86479609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12872520	chr13:86479614-86479615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185945920	chr13:86479621-86479622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149036173	chr13:86479645-86479646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61969481	chr13:86479646-86479647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554737083	chr13:86479653-86479654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189047393	chr13:86479665-86479666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549028649	chr13:86479672-86479673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567160616	chr13:86479732-86479733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79331524	chr13:86479767-86479768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546278661	chr13:86479811-86479812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571610829	chr13:86479850-86479851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575234988	chr13:86479853-86479854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538923330	chr13:86479860-86479861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181682737	chr13:86479866-86479867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138562319	chr13:86479881-86479882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186438719	chr13:86479885-86479886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554999239	chr13:86479901-86479902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542508051	chr13:86479949-86479950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573251959	chr13:86480052-86480053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191241093	chr13:86480124-86480125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1411304	chr13:86480218-86480219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1411305	chr13:86480222-86480223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182700536	chr13:86480275-86480276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564953816	chr13:86480287-86480288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562759943	chr13:86480296-86480297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530274080	chr13:86480304-86480305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541366040	chr13:86480309-86480310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542362275	chr13:86480343-86480344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561086965	chr13:86480351-86480352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528166613	chr13:86480366-86480367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144056365	chr13:86480406-86480407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7335481	chr13:86480415-86480416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113167294	chr13:86480439-86480440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550851683	chr13:86480447-86480448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543982519	chr13:86480508-86480509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562420998	chr13:86480571-86480572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529762374	chr13:86480580-86480581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148400721	chr13:86480586-86480587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369409302	chr13:86480595-86480596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373515171	chr13:86480596-86480597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142536238	chr13:86480597-86480598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56398814	chr13:86480598-86480599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569074148	chr13:86480643-86480644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536491775	chr13:86480696-86480697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9547435	chr13:86480723-86480724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147307642	chr13:86480735-86480736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534013519	chr13:86480791-86480792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139218989	chr13:86480797-86480798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576791884	chr13:86480807-86480808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86479600-86483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:86480400-86480800	Enhancers	Fetal Heart	heart
3	chr13:86483400-86483600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:86483600-86491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:86491600-86493000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:86491800-86492000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr13:86493000-86493800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:86504000-86505000	Enhancers	Liver	Liver
9	chr13:86504200-86504600	Enhancers	HepG2	liver
10	chr13:86509200-86512400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:86528400-86528800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:86537600-86537800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:86538000-86540800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
15	chr13:86540800-86541600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:86540800-86541800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:86541000-86541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
23	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
26	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
27	chr13:86548800-86549400	Enhancers	HMEC	breast
28	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:86549000-86549400	Enhancers	NH-A	brain
31	chr13:86549200-86549600	Active TSS	Right Atrium	heart
32	chr13:86549600-86550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:86549600-86550600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr13:86550200-86550400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:86550600-86550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr13:86554200-86554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:86559600-86560400	Enhancers	Hela-S3	cervix
39	chr13:86560000-86560600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:86560600-86560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:86569000-86570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:86569800-86570400	Active TSS	A549	lung
43	chr13:86570000-86571600	Enhancers	Hela-S3	cervix
44	chr13:86575800-86577800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:86576600-86578000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr13:86576800-86577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:86580400-86580800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr13:86580400-86581200	Enhancers	Fetal Lung	lung
49	chr13:86581200-86586200	Weak transcription	Fetal Lung	lung

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