Variant report

Variant	nsv900742
Chromosome Location	chr13:86463135-86618098
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	BACH1	chr13:86468449-86468546	K562	blood:	n/a	n/a
2	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
3	CEBPB	chr13:86618025-86618236	A549	lung:	n/a	chr13:86618119-86618130
4	CEBPB	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
5	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
6	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
7	CEBPB	chr13:86594469-86594938	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr13:86504325-86504590	HepG2	liver:	n/a	n/a
10	CEBPB	chr13:86594499-86594910	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr13:86617988-86618425	HepG2	liver:	n/a	chr13:86618119-86618130 chr13:86618397-86618410
12	CEBPB	chr13:86617956-86618283	IMR90	lung:	n/a	chr13:86618119-86618130
13	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
14	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr13:86618085-86618392	H1-hESC	embryonic stem cell:	n/a	chr13:86618119-86618130
16	CEBPB	chr13:86571759-86572199	Hela-S3	cervix:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
17	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
18	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
19	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
20	CHD1	chr13:86580317-86580340	GM12878	blood:	n/a	n/a
21	CHD1	chr13:86586758-86586857	GM12878	blood:	n/a	n/a
22	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
23	CTCF	chr13:86599192-86599250	Medullo	brain:	n/a	n/a
24	CTCF	chr13:86541320-86541470	GM12872	blood:	n/a	n/a
25	CTCF	chr13:86471380-86471530	Caco-2	colon:	n/a	n/a
26	CTCF	chr13:86471279-86471534	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr13:86471300-86471450	GM12869	blood:	n/a	n/a
28	CTCF	chr13:86471080-86471230	GM12871	blood:	n/a	n/a
29	CTCF	chr13:86471320-86471470	Caco-2	colon:	n/a	n/a
30	CTCF	chr13:86471300-86471450	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr13:86544982-86545086	HUVEC	blood vessel:	n/a	chr13:86545043-86545064
32	CTCF	chr13:86471360-86471510	HRE	kidney:	n/a	n/a
33	CTCF	chr13:86471240-86471390	GM12870	blood:	n/a	n/a
34	CTCF	chr13:86545060-86545210	HMEC	breast:	n/a	n/a
35	CTCF	chr13:86544960-86545110	HMF	breast:	n/a	chr13:86545043-86545064
36	CTCF	chr13:86470940-86471090	HepG2	liver:	n/a	n/a
37	CTCF	chr13:86544993-86545126	Hela-S3	cervix:	n/a	chr13:86545043-86545064
38	CTCF	chr13:86544989-86545047	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr13:86471303-86471479	GM13977	blood:	n/a	n/a
40	CTCF	chr13:86545000-86545150	AG04450	lung:	n/a	chr13:86545043-86545064
41	CTCF	chr13:86545000-86545150	HCM	heart:	n/a	chr13:86545043-86545064
42	CTCF	chr13:86471320-86471470	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr13:86471305-86471492	MCF-7	breast:	n/a	n/a
44	CTCF	chr13:86471217-86471482	Gliobla	brain:	n/a	n/a
45	CTCF	chr13:86471302-86471500	MCF-7	breast:	n/a	n/a
46	CTCF	chr13:86471182-86471207	MCF-7	breast:	n/a	n/a
47	CTCF	chr13:86544940-86545090	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
48	CTCF	chr13:86545013-86545077	Pancreas_OC	pancreas:	n/a	chr13:86545043-86545064
49	CTCF	chr13:86471380-86471530	GM12865	blood:	n/a	n/a
50	CTCF	chr13:86471000-86471150	HEK293	kidney:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-26	chr13:86575237-86575286	NONHSAT034572
2	lnc-SLITRK5-26	chr13:86610769-86611034	NONHSAT034572
3	lnc-SLITRK5-27	chr13:86543134-86543668	NONHSAT034571

Variant related genes	Relation type
MOB1AP1	TF binding region

Extended variants
information (count: 2379 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2379 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183317762	chr13:86470220-86470221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9547426	chr13:86470294-86470295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529147596	chr13:86470331-86470332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188674327	chr13:86470358-86470359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191019569	chr13:86470370-86470371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76683963	chr13:86470381-86470382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533128548	chr13:86470382-86470383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148030014	chr13:86470399-86470400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182652742	chr13:86470453-86470454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530886271	chr13:86470500-86470501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187340635	chr13:86470523-86470524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142483721	chr13:86470561-86470562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568009950	chr13:86470563-86470564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535327894	chr13:86470564-86470565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191349654	chr13:86470626-86470627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571718672	chr13:86470639-86470640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539533980	chr13:86470688-86470689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557525417	chr13:86470691-86470692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183925300	chr13:86470704-86470705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543060654	chr13:86470723-86470724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76706171	chr13:86470768-86470769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369957563	chr13:86470848-86470849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554934022	chr13:86470851-86470852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371188860	chr13:86470854-86470855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573632115	chr13:86470890-86470891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540944271	chr13:86470892-86470893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372977785	chr13:86470917-86470918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188651445	chr13:86470924-86470925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9547427	chr13:86470957-86470958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545493695	chr13:86470982-86470983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9547428	chr13:86470991-86470992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531026245	chr13:86470998-86470999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548673666	chr13:86471145-86471146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138546807	chr13:86471167-86471168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528824564	chr13:86471236-86471237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546941282	chr13:86471240-86471241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141536910	chr13:86471293-86471294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538807488	chr13:86471303-86471304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537751363	chr13:86471446-86471447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370085483	chr13:86471448-86471449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557525761	chr13:86471538-86471539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71210411	chr13:86471569-86471570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs398117668	chr13:86471577-86471578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79436486	chr13:86471578-86471579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs58156417	chr13:86474202-86474203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144732798	chr13:86474206-86474207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10450864	chr13:86474238-86474239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560548833	chr13:86474256-86474257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527854113	chr13:86474280-86474281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138606294	chr13:86474306-86474307	Enhancers	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86470200-86471400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:86470200-86471600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:86470200-86471600	Enhancers	HMEC	breast
4	chr13:86470200-86471600	Enhancers	NHEK	skin
5	chr13:86470400-86471200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:86474200-86475000	Enhancers	Liver	Liver
7	chr13:86479600-86483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:86480400-86480800	Enhancers	Fetal Heart	heart
9	chr13:86483400-86483600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:86483600-86491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:86491600-86493000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:86491800-86492000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr13:86493000-86493800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:86504000-86505000	Enhancers	Liver	Liver
15	chr13:86504200-86504600	Enhancers	HepG2	liver
16	chr13:86509200-86512400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:86528400-86528800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:86537600-86537800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:86538000-86540800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
21	chr13:86540800-86541600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:86540800-86541800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:86541000-86541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
29	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
32	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
33	chr13:86548800-86549400	Enhancers	HMEC	breast
34	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:86549000-86549400	Enhancers	NH-A	brain
37	chr13:86549200-86549600	Active TSS	Right Atrium	heart
38	chr13:86549600-86550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:86549600-86550600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr13:86550200-86550400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:86550600-86550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:86554200-86554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:86559600-86560400	Enhancers	Hela-S3	cervix
45	chr13:86560000-86560600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:86560600-86560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:86569000-86570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:86569800-86570400	Active TSS	A549	lung
49	chr13:86570000-86571600	Enhancers	Hela-S3	cervix
50	chr13:86575800-86577800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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