Variant report

Variant	nsv517795
Chromosome Location	chr13:87836852-87893390
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	chr13:87881000-87881207	A549	lung:	n/a	n/a
2	CEBPB	chr13:87880991-87881211	HepG2	liver:	n/a	n/a
3	CTCF	chr13:87887440-87887590	AG09319	gingival:	n/a	n/a
4	CTCF	chr13:87887560-87887710	RPTEC	kidney:	n/a	n/a
5	CTCF	chr13:87887420-87887570	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr13:87887498-87887603	Gliobla	brain:	n/a	n/a
7	CTCF	chr13:87887460-87887610	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr13:87887460-87887610	HRE	kidney:	n/a	n/a
9	CTCF	chr13:87887560-87887710	HAc	cerebellar:	n/a	n/a
10	CTCF	chr13:87878650-87878671	Fibrobl	skin:	n/a	n/a
11	CTCF	chr13:87838722-87838808	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr13:87887420-87887570	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr13:87887420-87887570	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr13:87887460-87887610	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr13:87887460-87887610	AG09319	gingival:	n/a	n/a
16	CTCF	chr13:87863317-87863385	GM13977	blood:	n/a	n/a
17	E2F4	chr13:87874127-87874329	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr13:87892543-87892803	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr13:87867064-87867139	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr13:87846267-87846468	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr13:87845856-87846023	GM12878	blood:	n/a	n/a
22	EP300	chr13:87846399-87846513	HepG2	liver:	n/a	n/a
23	FOS	chr13:87853666-87854009	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr13:87853726-87853959	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr13:87887907-87888245	MCF10A-Er-Src	breast:	n/a	chr13:87888088-87888095
26	FOS	chr13:87887904-87888240	MCF10A-Er-Src	breast:	n/a	chr13:87888088-87888095
27	FOS	chr13:87887904-87888257	MCF10A-Er-Src	breast:	n/a	chr13:87888088-87888095
28	FOS	chr13:87887904-87888236	MCF10A-Er-Src	breast:	n/a	chr13:87888088-87888095
29	FOS	chr13:87853696-87853903	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr13:87853692-87853971	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA1	chr13:87884243-87884604	T-47D	breast:	n/a	n/a
32	GATA1	chr13:87860835-87861293	PBDE	blood:	n/a	n/a
33	GATA2	chr13:87860875-87861285	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr13:87848006-87848206	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr13:87860838-87861229	SH-SY5Y	brain:	n/a	n/a
36	IRF3	chr13:87846733-87846933	HepG2	liver:	n/a	n/a
37	JUN	chr13:87846011-87846147	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAFF	chr13:87876576-87876848	HepG2	liver:	n/a	chr13:87876691-87876709
39	MAFK	chr13:87876564-87876764	IMR90	lung:	n/a	chr13:87876693-87876709 chr13:87876694-87876705 chr13:87876693-87876704 chr13:87876693-87876708 chr13:87876692-87876706 chr13:87876693-87876704
40	MAFK	chr13:87876551-87876818	HepG2	liver:	n/a	chr13:87876693-87876709 chr13:87876694-87876705 chr13:87876693-87876704 chr13:87876693-87876708 chr13:87876692-87876706 chr13:87876693-87876704
41	MAFK	chr13:87876535-87876820	HepG2	liver:	n/a	chr13:87876693-87876709 chr13:87876694-87876705 chr13:87876693-87876704 chr13:87876693-87876708 chr13:87876692-87876706 chr13:87876693-87876704
42	MAX	chr13:87840906-87840928	NB4	blood:	n/a	n/a
43	MXI1	chr13:87855127-87855298	GM12878	blood:	n/a	n/a
44	MYC	chr13:87888045-87888106	MCF10A-Er-Src	breast:	n/a	n/a
45	NANOG	chr13:87838960-87839084	H1-hESC	embryonic stem cell:	n/a	n/a
46	NFYB	chr13:87846058-87846258	GM12878	blood:	n/a	n/a
47	PAX5	chr13:87861002-87861209	GM12878	blood:	n/a	n/a
48	PAX5	chr13:87861050-87861244	GM12878	blood:	n/a	n/a
49	POLR2A	chr13:87845048-87845236	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr13:87852185-87852278	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:87863872..87866433-chr13:87868902..87871110,2	MCF-7	breast:
2	chr13:87863872..87866433-chr13:87868902..87871110,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-17	chr13:87840003-87840983	NONHSAT034582
2	lnc-SLITRK5-17	chr13:87842458-87842506	NONHSAT034582

Variant related genes	Relation type
UBBP5	TF binding region

Extended variants
information (count: 2379 )
Associated
traits (count: 86 )

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	rs1967454	chr13:87836852-87836853	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73565498	chr13:87836874-87836875	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566034983	chr13:87836876-87836877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs571491806	chr13:87836998-87836999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540530085	chr13:87837850-87837851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs377604484	chr13:87837851-87837852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111918216	chr13:87837887-87837888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs112657581	chr13:87837896-87837897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577014923	chr13:87837897-87837898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544436971	chr13:87837898-87837899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs144091092	chr13:87837992-87837993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs180983831	chr13:87838050-87838051	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116018419	chr13:87838103-87838104	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560289023	chr13:87838152-87838153	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146499567	chr13:87838208-87838209	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs139958584	chr13:87838209-87838210	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs113421759	chr13:87838281-87838282	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186396875	chr13:87838341-87838342	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs571597402	chr13:87838342-87838343	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189338362	chr13:87838359-87838360	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561938232	chr13:87838429-87838430	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373221603	chr13:87838491-87838492	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112246727	chr13:87838505-87838506	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75861489	chr13:87838506-87838507	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149754452	chr13:87838589-87838590	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377310934	chr13:87838647-87838648	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541353682	chr13:87838651-87838652	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371212991	chr13:87838654-87838655	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186572693	chr13:87838670-87838671	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145691272	chr13:87838709-87838710	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73567603	chr13:87838717-87838718	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562274591	chr13:87838718-87838719	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148934321	chr13:87838752-87838753	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529473973	chr13:87838780-87838781	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80174426	chr13:87838784-87838785	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76221234	chr13:87838785-87838786	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78577344	chr13:87838791-87838792	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76081263	chr13:87838792-87838793	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79689960	chr13:87838794-87838795	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72622929	chr13:87838799-87838800	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78275988	chr13:87838801-87838802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559959375	chr13:87838802-87838803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78937325	chr13:87838803-87838804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75567783	chr13:87838804-87838805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79490939	chr13:87838805-87838806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72480687	chr13:87838806-87838807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79710880	chr13:87838807-87838808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72648143	chr13:87838816-87838817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544372817	chr13:87838889-87838890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375698965	chr13:87838891-87838892	Weak transcription Enhancers	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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	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
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87836600-87837000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:87837800-87838400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:87838000-87839000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr13:87838000-87839800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:87838200-87838400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:87838400-87838800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:87838400-87839000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:87838400-87839400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:87838400-87839800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:87838400-87839800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr13:87838400-87840200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:87838800-87840600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:87839000-87839600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr13:87839000-87839800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr13:87839400-87840200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr13:87839600-87839800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr13:87839800-87840800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:87839800-87842400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr13:87839800-87842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:87840200-87841200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:87840600-87845200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:87840800-87844200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr13:87841200-87844800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr13:87842400-87843800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:87842400-87844200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr13:87842600-87842800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:87842600-87843600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr13:87842800-87843000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:87842800-87843200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:87843000-87843400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:87843200-87843400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:87844200-87844600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr13:87844200-87845200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr13:87844400-87844800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:87844600-87845000	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr13:87844800-87845800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr13:87845200-87845800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:87845800-87846000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr13:87845800-87848400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:87847400-87847800	Active TSS	Liver	Liver
41	chr13:87847800-87848200	Bivalent/Poised TSS	Liver	Liver
42	chr13:87847800-87848400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr13:87848400-87852200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:87848400-87859400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr13:87849800-87850200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr13:87850400-87851000	Enhancers	Fetal Heart	heart
47	chr13:87852200-87852400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:87852400-87853200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:87853200-87853800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:87853800-87854400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links