Variant report

Variant	nsv832669
Chromosome Location	chr13:86543824-86697234
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	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
2	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
3	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
5	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
6	CEBPB	chr13:86630585-86630894	HepG2	liver:	n/a	chr13:86630756-86630767
7	CEBPB	chr13:86686647-86686917	A549	lung:	n/a	chr13:86686791-86686802
8	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
9	CEBPB	chr13:86571759-86572199	Hela-S3	cervix:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
10	CEBPB	chr13:86618085-86618392	H1-hESC	embryonic stem cell:	n/a	chr13:86618119-86618130
11	CEBPB	chr13:86617988-86618425	HepG2	liver:	n/a	chr13:86618119-86618130 chr13:86618397-86618410
12	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
13	CEBPB	chr13:86686733-86686933	H1-hESC	embryonic stem cell:	n/a	chr13:86686791-86686802
14	CEBPB	chr13:86686654-86686949	IMR90	lung:	n/a	chr13:86686791-86686802
15	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
16	CEBPB	chr13:86617956-86618283	IMR90	lung:	n/a	chr13:86618119-86618130
17	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr13:86686664-86686974	HepG2	liver:	n/a	chr13:86686791-86686802
19	CEBPB	chr13:86630656-86630913	A549	lung:	n/a	chr13:86630756-86630767
20	CEBPB	chr13:86618025-86618236	A549	lung:	n/a	chr13:86618119-86618130
21	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
22	CEBPB	chr13:86594499-86594910	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr13:86594469-86594938	Hela-S3	cervix:	n/a	n/a
24	CHD1	chr13:86586758-86586857	GM12878	blood:	n/a	n/a
25	CHD1	chr13:86580317-86580340	GM12878	blood:	n/a	n/a
26	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
27	CTCF	chr13:86660120-86660270	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr13:86551143-86551216	LNCaP	prostate:	n/a	n/a
29	CTCF	chr13:86608152-86608211	GM20000	blood:	n/a	n/a
30	CTCF	chr13:86660116-86660317	LNCaP	prostate:	n/a	n/a
31	CTCF	chr13:86660080-86660230	BE2_C	brain:	n/a	n/a
32	CTCF	chr13:86660120-86660270	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr13:86660060-86660210	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr13:86660200-86660234	GM13977	blood:	n/a	n/a
35	CTCF	chr13:86544960-86545110	HPAF	blood vessel:	n/a	chr13:86545043-86545064
36	CTCF	chr13:86599196-86599277	Lung_OC	lung:	n/a	n/a
37	CTCF	chr13:86660140-86660290	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr13:86544958-86545137	LNCaP	prostate:	n/a	chr13:86545043-86545064
39	CTCF	chr13:86660080-86660230	HMEC	breast:	n/a	n/a
40	CTCF	chr13:86660120-86660270	SAEC	small airway:	n/a	n/a
41	CTCF	chr13:86660120-86660270	HPF	lung:	n/a	n/a
42	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
43	CTCF	chr13:86545000-86545150	AG04450	lung:	n/a	chr13:86545043-86545064
44	CTCF	chr13:86544980-86545130	RPTEC	kidney:	n/a	chr13:86545043-86545064
45	CTCF	chr13:86660212-86660260	GM10248	blood:	n/a	n/a
46	CTCF	chr13:86660118-86660302	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr13:86660140-86660290	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr13:86683820-86683970	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr13:86544975-86545091	LNCaP	prostate:	n/a	chr13:86545043-86545064
50	CTCF	chr13:86544956-86545186	IMR90	lung:	n/a	chr13:86545043-86545064

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-26	chr13:86610769-86611034	NONHSAT034572
2	lnc-SLITRK5-26	chr13:86575237-86575286	NONHSAT034572
3	lnc-SLITRK5-10	chr13:86646962-86647061	ENSG00000232252
4	lnc-SLITRK5-25	chr13:86641833-86642021	NONHSAT034574
5	lnc-SLITRK5-25	chr13:86645552-86645612	NONHSAT034574
6	lnc-SLITRK5-10	chr13:86634948-86634995	ENSG00000232252

Variant related genes	Relation type
ENSG00000232252	TF binding region

Extended variants
information (count: 1422 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1422 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144073383	chr13:86543837-86543838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146460396	chr13:86543841-86543842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557568688	chr13:86543861-86543862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150361097	chr13:86543883-86543884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35773713	chr13:86543884-86543885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568519731	chr13:86543926-86543927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191735032	chr13:86543939-86543940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576251662	chr13:86543970-86543971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543536567	chr13:86543981-86543982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140759353	chr13:86544006-86544007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528839304	chr13:86544020-86544021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150097120	chr13:86544025-86544026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145459380	chr13:86544072-86544073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149229125	chr13:86544076-86544077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551187224	chr13:86544105-86544106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184107601	chr13:86544144-86544145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575204844	chr13:86544167-86544168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530951559	chr13:86544178-86544179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549025834	chr13:86544220-86544221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567653110	chr13:86544236-86544237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188057399	chr13:86544309-86544310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546958958	chr13:86544311-86544312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571876779	chr13:86544321-86544322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531998479	chr13:86544332-86544333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181006859	chr13:86544340-86544341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557632036	chr13:86544367-86544368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111868951	chr13:86544398-86544399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368591269	chr13:86544426-86544427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555143773	chr13:86544508-86544509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573595104	chr13:86544524-86544525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12860968	chr13:86544566-86544567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559276723	chr13:86544567-86544568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577560662	chr13:86544568-86544569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544892261	chr13:86544577-86544578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112591448	chr13:86544745-86544746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187225335	chr13:86544765-86544766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549476839	chr13:86544775-86544776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544313528	chr13:86544830-86544831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147266243	chr13:86544848-86544849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113998833	chr13:86544867-86544868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528565992	chr13:86544873-86544874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146906727	chr13:86544909-86544910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190409035	chr13:86544981-86544982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539352744	chr13:86545012-86545013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551252706	chr13:86545016-86545017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374931339	chr13:86545061-86545062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569496273	chr13:86545067-86545068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181705583	chr13:86545085-86545086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73545709	chr13:86545110-86545111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573681177	chr13:86545112-86545113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
2	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
5	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
8	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
9	chr13:86548800-86549400	Enhancers	HMEC	breast
10	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:86549000-86549400	Enhancers	NH-A	brain
13	chr13:86549200-86549600	Active TSS	Right Atrium	heart
14	chr13:86549600-86550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:86549600-86550600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr13:86550200-86550400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:86550600-86550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr13:86554200-86554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:86559600-86560400	Enhancers	Hela-S3	cervix
21	chr13:86560000-86560600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:86560600-86560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:86569000-86570000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:86569800-86570400	Active TSS	A549	lung
25	chr13:86570000-86571600	Enhancers	Hela-S3	cervix
26	chr13:86575800-86577800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:86576600-86578000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:86576800-86577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:86580400-86580800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr13:86580400-86581200	Enhancers	Fetal Lung	lung
31	chr13:86581200-86586200	Weak transcription	Fetal Lung	lung
32	chr13:86585600-86587000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr13:86586200-86586600	Enhancers	Fetal Lung	lung
34	chr13:86590400-86590600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:86590600-86591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:86591200-86593200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:86591400-86591600	Enhancers	Fetal Lung	lung
38	chr13:86591600-86593800	Weak transcription	Fetal Lung	lung
39	chr13:86593200-86593600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:86593600-86595600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr13:86593600-86596600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:86593800-86598400	Enhancers	Fetal Lung	lung
43	chr13:86594200-86594400	Enhancers	Hela-S3	cervix
44	chr13:86594200-86595600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:86594400-86594600	Enhancers	Adipose Nuclei	Adipose
46	chr13:86594400-86594800	Enhancers	Colon Smooth Muscle	Colon
47	chr13:86594400-86594800	Active TSS	A549	lung
48	chr13:86594400-86594800	Flanking Active TSS	Hela-S3	cervix
49	chr13:86594400-86595000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:86594400-86595600	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links