Variant report

Variant	nsv1035427
Chromosome Location	chr13:86539848-86588087
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	chr13:86571759-86572199	Hela-S3	cervix:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
2	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
3	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
4	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
5	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
6	CEBPB	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
7	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
9	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
11	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
12	CHD1	chr13:86586758-86586857	GM12878	blood:	n/a	n/a
13	CHD1	chr13:86580317-86580340	GM12878	blood:	n/a	n/a
14	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
15	CTCF	chr13:86544972-86545135	Medullo	brain:	n/a	chr13:86545043-86545064
16	CTCF	chr13:86544993-86545126	Hela-S3	cervix:	n/a	chr13:86545043-86545064
17	CTCF	chr13:86551060-86551210	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
19	CTCF	chr13:86544998-86545086	Lung_OC	lung:	n/a	chr13:86545043-86545064
20	CTCF	chr13:86545013-86545077	Pancreas_OC	pancreas:	n/a	chr13:86545043-86545064
21	CTCF	chr13:86544956-86545186	IMR90	lung:	n/a	chr13:86545043-86545064
22	CTCF	chr13:86544980-86545130	RPTEC	kidney:	n/a	chr13:86545043-86545064
23	CTCF	chr13:86544940-86545090	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
24	CTCF	chr13:86545060-86545210	HMEC	breast:	n/a	n/a
25	CTCF	chr13:86544960-86545110	HMF	breast:	n/a	chr13:86545043-86545064
26	CTCF	chr13:86541320-86541470	GM12872	blood:	n/a	n/a
27	CTCF	chr13:86544975-86545091	LNCaP	prostate:	n/a	chr13:86545043-86545064
28	CTCF	chr13:86544982-86545086	HUVEC	blood vessel:	n/a	chr13:86545043-86545064
29	CTCF	chr13:86545000-86545150	AG04450	lung:	n/a	chr13:86545043-86545064
30	CTCF	chr13:86544958-86545137	LNCaP	prostate:	n/a	chr13:86545043-86545064
31	CTCF	chr13:86544960-86545110	HPAF	blood vessel:	n/a	chr13:86545043-86545064
32	CTCF	chr13:86544980-86545130	HRPEpiC	eye:	n/a	chr13:86545043-86545064
33	CTCF	chr13:86544960-86545110	HPF	lung:	n/a	chr13:86545043-86545064
34	CTCF	chr13:86544940-86545090	AG09319	gingival:	n/a	chr13:86545043-86545064
35	CTCF	chr13:86551055-86551337	GM12878	blood:	n/a	n/a
36	CTCF	chr13:86551143-86551216	LNCaP	prostate:	n/a	n/a
37	CTCF	chr13:86544980-86545130	HEEpiC	esophagus:	n/a	chr13:86545043-86545064
38	CTCF	chr13:86544980-86545130	HMEC	breast:	n/a	chr13:86545043-86545064
39	CTCF	chr13:86545000-86545150	HCM	heart:	n/a	chr13:86545043-86545064
40	CTCF	chr13:86544989-86545047	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr13:86544960-86545110	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
42	CUX1	chr13:86570223-86570340	GM12878	blood:	n/a	n/a
43	CUX1	chr13:86565561-86565609	GM12878	blood:	n/a	n/a
44	E2F4	chr13:86544168-86544284	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr13:86551080-86551098	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr13:86544900-86545286	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F6	chr13:86564465-86564914	H1-hESC	embryonic stem cell:	n/a	n/a
48	EBF1	chr13:86556170-86556530	GM12878	blood:	n/a	n/a
49	ELK1	chr13:86564557-86564581	Hela-S3	cervix:	n/a	n/a
50	EP300	chr13:86545472-86545977	T-47D	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: 905 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:905 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7988447	chr13:86539848-86539849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149728948	chr13:86539896-86539897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148439120	chr13:86539989-86539990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567016606	chr13:86540008-86540009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375014176	chr13:86540049-86540050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181824750	chr13:86540076-86540077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374410909	chr13:86540120-86540121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552523193	chr13:86540190-86540191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571017759	chr13:86540241-86540242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146718194	chr13:86540247-86540248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556595262	chr13:86540248-86540249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376739778	chr13:86540295-86540296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140312267	chr13:86540301-86540302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535811572	chr13:86540305-86540306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187418583	chr13:86540344-86540345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573083906	chr13:86540416-86540417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191808960	chr13:86540427-86540428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145334340	chr13:86540429-86540430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576927144	chr13:86540437-86540438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs137914020	chr13:86540446-86540447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7325980	chr13:86540468-86540469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11841292	chr13:86540515-86540516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542274903	chr13:86540545-86540546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199888425	chr13:86540552-86540553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553665098	chr13:86540553-86540554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577118756	chr13:86540579-86540580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183485277	chr13:86540592-86540593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570962226	chr13:86540616-86540617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34959526	chr13:86540628-86540629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550280336	chr13:86540654-86540655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568646709	chr13:86540699-86540700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149033631	chr13:86540703-86540704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186324719	chr13:86540778-86540779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7331467	chr13:86540789-86540790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs368207556	chr13:86540815-86540816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75830692	chr13:86540838-86540839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143011401	chr13:86540924-86540925	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7331515	chr13:86540939-86540940	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544387149	chr13:86540940-86540941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367851368	chr13:86541013-86541014	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545968337	chr13:86541038-86541039	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375324087	chr13:86541065-86541066	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556375294	chr13:86541086-86541087	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575012020	chr13:86541101-86541102	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148170978	chr13:86541102-86541103	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565131922	chr13:86541107-86541108	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113892199	chr13:86541119-86541120	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371690212	chr13:86541134-86541135	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376259920	chr13:86541183-86541184	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546203814	chr13:86541264-86541265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Prostate cancer	18632612	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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86538000-86540800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
3	chr13:86540800-86541600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:86540800-86541800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:86541000-86541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
11	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
14	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
15	chr13:86548800-86549400	Enhancers	HMEC	breast
16	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:86549000-86549400	Enhancers	NH-A	brain
19	chr13:86549200-86549600	Active TSS	Right Atrium	heart
20	chr13:86549600-86550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:86549600-86550600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr13:86550200-86550400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:86550600-86550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr13:86554200-86554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:86559600-86560400	Enhancers	Hela-S3	cervix
27	chr13:86560000-86560600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:86560600-86560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:86569000-86570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:86569800-86570400	Active TSS	A549	lung
31	chr13:86570000-86571600	Enhancers	Hela-S3	cervix
32	chr13:86575800-86577800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:86576600-86578000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:86576800-86577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:86580400-86580800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr13:86580400-86581200	Enhancers	Fetal Lung	lung
37	chr13:86581200-86586200	Weak transcription	Fetal Lung	lung
38	chr13:86585600-86587000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr13:86586200-86586600	Enhancers	Fetal Lung	lung

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