Variant report

Variant	nsv900754
Chromosome Location	chr13:86558900-86639464
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	chr13:86594469-86594938	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
4	CEBPB	chr13:86617988-86618425	HepG2	liver:	n/a	chr13:86618119-86618130 chr13:86618397-86618410
5	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
7	CEBPB	chr13:86618025-86618236	A549	lung:	n/a	chr13:86618119-86618130
8	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
9	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
10	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
11	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
12	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr13:86617956-86618283	IMR90	lung:	n/a	chr13:86618119-86618130
14	CEBPB	chr13:86630656-86630913	A549	lung:	n/a	chr13:86630756-86630767
15	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
16	CEBPB	chr13:86618085-86618392	H1-hESC	embryonic stem cell:	n/a	chr13:86618119-86618130
17	CEBPB	chr13:86630585-86630894	HepG2	liver:	n/a	chr13:86630756-86630767
18	CEBPB	chr13:86594499-86594910	ECC-1	luminal epithelium:	n/a	n/a
19	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
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	chr13:86621211-86621253	GM20000	blood:	n/a	n/a
24	CTCF	chr13:86608152-86608211	GM20000	blood:	n/a	n/a
25	CTCF	chr13:86599196-86599277	Lung_OC	lung:	n/a	n/a
26	CTCF	chr13:86599192-86599250	Medullo	brain:	n/a	n/a
27	CTCF	chr13:86599186-86599263	Spleen_OC	spleen:	n/a	n/a
28	CUX1	chr13:86570223-86570340	GM12878	blood:	n/a	n/a
29	CUX1	chr13:86565561-86565609	GM12878	blood:	n/a	n/a
30	E2F4	chr13:86588997-86589197	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F6	chr13:86564465-86564914	H1-hESC	embryonic stem cell:	n/a	n/a
32	ELK1	chr13:86564557-86564581	Hela-S3	cervix:	n/a	n/a
33	EP300	chr13:86586751-86586791	GM12878	blood:	n/a	n/a
34	EP300	chr13:86624995-86626132	ECC-1	luminal epithelium:	n/a	n/a
35	EP300	chr13:86593831-86593850	GM12878	blood:	n/a	n/a
36	EP300	chr13:86559991-86560335	Hela-S3	cervix:	n/a	n/a
37	EP300	chr13:86577089-86577688	ECC-1	luminal epithelium:	n/a	n/a
38	EP300	chr13:86561001-86561588	T-47D	breast:	n/a	n/a
39	EP300	chr13:86577098-86577637	ECC-1	luminal epithelium:	n/a	n/a
40	EP300	chr13:86559694-86560530	ECC-1	luminal epithelium:	n/a	chr13:86559711-86559718
41	EP300	chr13:86594334-86595159	ECC-1	luminal epithelium:	n/a	n/a
42	ESR1	chr13:86570071-86570398	T-47D	breast:	n/a	n/a
43	ESR1	chr13:86594456-86594952	ECC-1	luminal epithelium:	n/a	n/a
44	ESR1	chr13:86570119-86570349	T-47D	breast:	n/a	n/a
45	ESR1	chr13:86594501-86594864	ECC-1	luminal epithelium:	n/a	n/a
46	FAM48A	chr13:86630612-86630725	GM12878	blood:	n/a	n/a
47	FAM48A	chr13:86624824-86624937	GM12878	blood:	n/a	n/a
48	FOS	chr13:86571812-86572069	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr13:86559939-86560274	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr13:86625691-86626072	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-26	chr13:86610769-86611034	NONHSAT034572
2	lnc-SLITRK5-10	chr13:86634948-86634995	ENSG00000232252
3	lnc-SLITRK5-26	chr13:86575237-86575286	NONHSAT034572

Variant related genes	Relation type
ENSG00000232252	TF binding region

Extended variants
information (count: 953 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:953 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9594085	chr13:86559459-86559460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75414415	chr13:86559474-86559475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554798885	chr13:86559489-86559490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79198678	chr13:86559502-86559503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371193242	chr13:86559530-86559531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374440218	chr13:86559531-86559532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565094039	chr13:86559570-86559571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73545759	chr13:86559597-86559598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558911011	chr13:86559610-86559611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566983354	chr13:86559661-86559662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368877051	chr13:86559682-86559683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76770106	chr13:86559691-86559692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145654329	chr13:86559759-86559760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534285267	chr13:86559791-86559792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35178632	chr13:86559841-86559842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74521631	chr13:86559853-86559854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569895024	chr13:86559894-86559895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182143861	chr13:86559923-86559924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35044661	chr13:86559957-86559958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375379849	chr13:86559973-86559974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60258005	chr13:86560004-86560005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564910987	chr13:86560044-86560045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532044368	chr13:86560055-86560056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368387216	chr13:86560092-86560093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34154179	chr13:86560096-86560097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376848356	chr13:86560129-86560130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569218730	chr13:86560157-86560158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144146539	chr13:86560187-86560188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78232245	chr13:86560254-86560255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566620331	chr13:86560269-86560270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28579432	chr13:86560309-86560310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186731546	chr13:86560310-86560311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191526052	chr13:86560372-86560373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115024443	chr13:86560402-86560403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141266441	chr13:86560406-86560407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574833771	chr13:86560410-86560411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112422031	chr13:86560426-86560427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574772284	chr13:86560442-86560443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11380850	chr13:86560443-86560444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34941937	chr13:86560450-86560451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571150784	chr13:86560455-86560456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183350736	chr13:86560464-86560465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570504175	chr13:86560480-86560481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150767070	chr13:86560580-86560581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541801687	chr13:86560587-86560588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546361232	chr13:86560610-86560611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144902024	chr13:86560690-86560691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139585995	chr13:86560718-86560719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576868340	chr13:86560720-86560721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543909282	chr13:86560734-86560735	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Osteosarcoma	21215367	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:86559600-86560400	Enhancers	Hela-S3	cervix
3	chr13:86560000-86560600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:86560600-86560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:86569000-86570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:86569800-86570400	Active TSS	A549	lung
7	chr13:86570000-86571600	Enhancers	Hela-S3	cervix
8	chr13:86575800-86577800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:86576600-86578000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:86576800-86577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:86580400-86580800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr13:86580400-86581200	Enhancers	Fetal Lung	lung
13	chr13:86581200-86586200	Weak transcription	Fetal Lung	lung
14	chr13:86585600-86587000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr13:86586200-86586600	Enhancers	Fetal Lung	lung
16	chr13:86590400-86590600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:86590600-86591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:86591200-86593200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:86591400-86591600	Enhancers	Fetal Lung	lung
20	chr13:86591600-86593800	Weak transcription	Fetal Lung	lung
21	chr13:86593200-86593600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:86593600-86595600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:86593600-86596600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:86593800-86598400	Enhancers	Fetal Lung	lung
25	chr13:86594200-86594400	Enhancers	Hela-S3	cervix
26	chr13:86594200-86595600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:86594400-86594600	Enhancers	Adipose Nuclei	Adipose
28	chr13:86594400-86594800	Enhancers	Colon Smooth Muscle	Colon
29	chr13:86594400-86594800	Active TSS	A549	lung
30	chr13:86594400-86594800	Flanking Active TSS	Hela-S3	cervix
31	chr13:86594400-86595000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:86594400-86595600	Enhancers	Fetal Heart	heart
33	chr13:86594600-86595000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr13:86594600-86595200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:86594800-86595000	Enhancers	Hela-S3	cervix
36	chr13:86594800-86595200	Enhancers	A549	lung
37	chr13:86595000-86595200	Enhancers	Adipose Nuclei	Adipose
38	chr13:86595000-86595800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:86613400-86613800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr13:86613600-86614000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr13:86624800-86625600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:86625200-86625600	Enhancers	A549	lung
43	chr13:86625200-86625800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr13:86625400-86626200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:86625600-86626200	Enhancers	Hela-S3	cervix
46	chr13:86626200-86627800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:86627200-86627600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:86633400-86633800	Enhancers	Fetal Heart	heart

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