Variant report

Variant	nsv900752
Chromosome Location	chr13:86545903-86949574
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	BATF	chr13:86934790-86935037	GM12878	blood:	n/a	n/a
2	BATF	chr13:86934777-86935006	GM12878	blood:	n/a	n/a
3	CEBPB	chr13:86686733-86686933	H1-hESC	embryonic stem cell:	n/a	chr13:86686791-86686802
4	CEBPB	chr13:86751110-86751310	IMR90	lung:	n/a	n/a
5	CEBPB	chr13:86618085-86618392	H1-hESC	embryonic stem cell:	n/a	chr13:86618119-86618130
6	CEBPB	chr13:86702057-86702340	HepG2	liver:	n/a	chr13:86702099-86702112 chr13:86702227-86702238
7	CEBPB	chr13:86931198-86931400	HepG2	liver:	n/a	chr13:86931298-86931309 chr13:86931297-86931310
8	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
9	CEBPB	chr13:86630656-86630913	A549	lung:	n/a	chr13:86630756-86630767
10	CEBPB	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
11	CEBPB	chr13:86594469-86594938	Hela-S3	cervix:	n/a	n/a
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	CEBPB	chr13:86630585-86630894	HepG2	liver:	n/a	chr13:86630756-86630767
14	CEBPB	chr13:86618025-86618236	A549	lung:	n/a	chr13:86618119-86618130
15	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
16	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
18	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
19	CEBPB	chr13:86686647-86686917	A549	lung:	n/a	chr13:86686791-86686802
20	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
21	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
22	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr13:86686664-86686974	HepG2	liver:	n/a	chr13:86686791-86686802
24	CEBPB	chr13:86617956-86618283	IMR90	lung:	n/a	chr13:86618119-86618130
25	CEBPB	chr13:86617988-86618425	HepG2	liver:	n/a	chr13:86618119-86618130 chr13:86618397-86618410
26	CEBPB	chr13:86594499-86594910	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr13:86940922-86941485	HepG2	liver:	n/a	chr13:86941329-86941340 chr13:86941327-86941338 chr13:86941329-86941340 chr13:86941327-86941340
28	CEBPB	chr13:86686654-86686949	IMR90	lung:	n/a	chr13:86686791-86686802
29	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
30	CEBPZ	chr13:86917470-86917590	HepG2	liver:	n/a	n/a
31	CHD1	chr13:86586758-86586857	GM12878	blood:	n/a	n/a
32	CHD1	chr13:86580317-86580340	GM12878	blood:	n/a	n/a
33	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
34	CTCF	chr13:86660140-86660290	AG09319	gingival:	n/a	n/a
35	CTCF	chr13:86929420-86929570	RPTEC	kidney:	n/a	n/a
36	CTCF	chr13:86660197-86660224	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr13:86748899-86748987	MCF-7	breast:	n/a	n/a
38	CTCF	chr13:86748800-86748950	HRE	kidney:	n/a	n/a
39	CTCF	chr13:86929340-86929490	MCF-7	breast:	n/a	n/a
40	CTCF	chr13:86755840-86755990	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr13:86660120-86660270	SAEC	small airway:	n/a	n/a
42	CTCF	chr13:86748857-86749037	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr13:86660212-86660260	GM10248	blood:	n/a	n/a
44	CTCF	chr13:86748840-86748990	MCF-7	breast:	n/a	n/a
45	CTCF	chr13:86660160-86660310	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr13:86660120-86660270	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr13:86660100-86660250	HAc	cerebellar:	n/a	n/a
48	CTCF	chr13:86660140-86660290	BE2_C	brain:	n/a	n/a
49	CTCF	chr13:86748875-86749021	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr13:86660120-86660270	HPF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:86659949..86660780-chr13:87926156..87926672,2	MCF-7	breast:
2	chr13:86660097..86660644-chr13:87926317..87926878,2	MCF-7	breast:
3	chr13:86659406..86660238-chr13:87098032..87098996,2	MCF-7	breast:
4	chr13:86659938..86660554-chr9:128222217..128222943,2	MCF-7	breast:
5	chr13:86748899..86749431-chr13:87116065..87116706,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-21	chr13:86927755-86928460	NONHSAT034576
2	lnc-SLITRK6-13	chr13:86894248-86895386	NONHSAT034575
3	lnc-SLITRK6-13	chr13:86911180-86911225	NONHSAT034575
4	lnc-SLITRK5-26	chr13:86610769-86611034	NONHSAT034572
5	lnc-SLITRK5-26	chr13:86575237-86575286	NONHSAT034572
6	lnc-SLITRK6-13	chr13:86897352-86897489	NONHSAT034575
7	lnc-SLITRK5-10	chr13:86634948-86634995	ENSG00000232252
8	lnc-SLITRK5-21	chr13:86928777-86929524	NONHSAT034576
9	lnc-SLITRK5-25	chr13:86641833-86642021	NONHSAT034574
10	lnc-SLITRK5-25	chr13:86645552-86645612	NONHSAT034574
11	lnc-SLITRK6-13	chr13:86923696-86923809	NONHSAT034575
12	lnc-SLITRK5-10	chr13:86744980-86745025	ENSG00000232252
13	lnc-SLITRK5-10	chr13:86646962-86647061	ENSG00000232252

Variant related genes	Relation type
ENSG00000232252	TF binding region
DDX6P2	TF binding region

Extended variants
information (count: 2171 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2171 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4432164	chr13:86545903-86545904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538212207	chr13:86545978-86545979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35363096	chr13:86545995-86545996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6563466	chr13:86546019-86546020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542897776	chr13:86546045-86546046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554477828	chr13:86546085-86546086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566182594	chr13:86546124-86546125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148122066	chr13:86546126-86546127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541879891	chr13:86546146-86546147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539423410	chr13:86546157-86546158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540395422	chr13:86546158-86546159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565346730	chr13:86546174-86546175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530113627	chr13:86546180-86546181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9602903	chr13:86546181-86546182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9594079	chr13:86546182-86546183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562865907	chr13:86546198-86546199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185888244	chr13:86546201-86546202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530364769	chr13:86546271-86546272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569573897	chr13:86546326-86546327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536992489	chr13:86546331-86546332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555142964	chr13:86546348-86546349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9602904	chr13:86546373-86546374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527858279	chr13:86546378-86546379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150628064	chr13:86546384-86546385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571043833	chr13:86546395-86546396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189805690	chr13:86546424-86546425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9547460	chr13:86546440-86546441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9602905	chr13:86546459-86546460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568795552	chr13:86546461-86546462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182606296	chr13:86546465-86546466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188868483	chr13:86546489-86546490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572970801	chr13:86546545-86546546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61968776	chr13:86546587-86546588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12873584	chr13:86546590-86546591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372670625	chr13:86546666-86546667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558761127	chr13:86546695-86546696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71210417	chr13:86546696-86546697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577458704	chr13:86546697-86546698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544705964	chr13:86546698-86546699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192026340	chr13:86546722-86546723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149340297	chr13:86546735-86546736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183508384	chr13:86546760-86546761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540711130	chr13:86546792-86546793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146274686	chr13:86546793-86546794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59678206	chr13:86546832-86546833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527962111	chr13:86546836-86546837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79244879	chr13:86546841-86546842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552402460	chr13:86546866-86546867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187308753	chr13:86546883-86546884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532086950	chr13:86546887-86546888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
2	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
4	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
7	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
8	chr13:86548800-86549400	Enhancers	HMEC	breast
9	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:86549000-86549400	Enhancers	NH-A	brain
12	chr13:86549200-86549600	Active TSS	Right Atrium	heart
13	chr13:86549600-86550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:86549600-86550600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:86550200-86550400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:86550600-86550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:86554200-86554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:86559600-86560400	Enhancers	Hela-S3	cervix
20	chr13:86560000-86560600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:86560600-86560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:86569000-86570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:86569800-86570400	Active TSS	A549	lung
24	chr13:86570000-86571600	Enhancers	Hela-S3	cervix
25	chr13:86575800-86577800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:86576600-86578000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:86576800-86577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:86580400-86580800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr13:86580400-86581200	Enhancers	Fetal Lung	lung
30	chr13:86581200-86586200	Weak transcription	Fetal Lung	lung
31	chr13:86585600-86587000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr13:86586200-86586600	Enhancers	Fetal Lung	lung
33	chr13:86590400-86590600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:86590600-86591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:86591200-86593200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:86591400-86591600	Enhancers	Fetal Lung	lung
37	chr13:86591600-86593800	Weak transcription	Fetal Lung	lung
38	chr13:86593200-86593600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:86593600-86595600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr13:86593600-86596600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:86593800-86598400	Enhancers	Fetal Lung	lung
42	chr13:86594200-86594400	Enhancers	Hela-S3	cervix
43	chr13:86594200-86595600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:86594400-86594600	Enhancers	Adipose Nuclei	Adipose
45	chr13:86594400-86594800	Enhancers	Colon Smooth Muscle	Colon
46	chr13:86594400-86594800	Active TSS	A549	lung
47	chr13:86594400-86594800	Flanking Active TSS	Hela-S3	cervix
48	chr13:86594400-86595000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:86594400-86595600	Enhancers	Fetal Heart	heart
50	chr13:86594600-86595000	Flanking Active TSS	Adipose Nuclei	Adipose

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