Variant report

Variant	esv3436529
Chromosome Location	chr13:89906000-89928585
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	chr13:89921156-89921403	HepG2	liver:	n/a	chr13:89921266-89921277
2	CTCF	chr13:89920420-89920570	HPF	lung:	n/a	n/a
3	CTCF	chr13:89907570-89907625	Medullo	brain:	n/a	n/a
4	E2F4	chr13:89918486-89918648	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr13:89911319-89911555	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr13:89922061-89922361	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr13:89922037-89922308	SK-N-SH_RA	brain:	n/a	n/a
8	FOS	chr13:89919868-89920566	MCF10A-Er-Src	breast:	n/a	chr13:89920146-89920154 chr13:89920147-89920154 chr13:89920145-89920155 chr13:89920145-89920155 chr13:89920146-89920154 chr13:89920145-89920155 chr13:89920145-89920155
9	FOS	chr13:89919972-89920415	MCF10A-Er-Src	breast:	n/a	chr13:89920146-89920154 chr13:89920147-89920154 chr13:89920145-89920155 chr13:89920145-89920155 chr13:89920146-89920154 chr13:89920145-89920155 chr13:89920145-89920155
10	FOS	chr13:89919971-89920332	MCF10A-Er-Src	breast:	n/a	chr13:89920146-89920154 chr13:89920147-89920154 chr13:89920145-89920155 chr13:89920145-89920155 chr13:89920146-89920154 chr13:89920145-89920155 chr13:89920145-89920155
11	FOS	chr13:89919910-89920581	MCF10A-Er-Src	breast:	n/a	chr13:89920146-89920154 chr13:89920147-89920154 chr13:89920145-89920155 chr13:89920145-89920155 chr13:89920146-89920154 chr13:89920145-89920155 chr13:89920145-89920155
12	FOS	chr13:89918944-89918974	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXP2	chr13:89922042-89922367	SK-N-MC	brain:	n/a	n/a
14	GATA2	chr13:89921979-89922401	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr13:89922089-89922413	SH-SY5Y	brain:	n/a	n/a
16	JUN	chr13:89914640-89914762	HepG2	liver:	n/a	chr13:89914687-89914700
17	MAFF	chr13:89908141-89908477	HepG2	liver:	n/a	chr13:89908289-89908307
18	MAFF	chr13:89911290-89911582	HepG2	liver:	n/a	chr13:89911414-89911432
19	MAFK	chr13:89908125-89908453	HepG2	liver:	n/a	chr13:89908290-89908305
20	MAFK	chr13:89911243-89911590	IMR90	lung:	n/a	chr13:89911416-89911431 chr13:89911417-89911428 chr13:89911416-89911432 chr13:89911416-89911427 chr13:89911415-89911429 chr13:89911416-89911427
21	MAFK	chr13:89927807-89928005	HepG2	liver:	n/a	chr13:89927869-89927880 chr13:89927869-89927884 chr13:89927868-89927882 chr13:89927870-89927881 chr13:89927869-89927880
22	MAFK	chr13:89908126-89908474	IMR90	lung:	n/a	chr13:89908290-89908305
23	MAFK	chr13:89927787-89928006	HepG2	liver:	n/a	chr13:89927869-89927880 chr13:89927869-89927884 chr13:89927868-89927882 chr13:89927870-89927881 chr13:89927869-89927880
24	MAFK	chr13:89918520-89918689	HepG2	liver:	n/a	n/a
25	MAFK	chr13:89908116-89908477	HepG2	liver:	n/a	chr13:89908290-89908305
26	MAFK	chr13:89918594-89918672	HepG2	liver:	n/a	n/a
27	MAFK	chr13:89911377-89911514	H1-hESC	embryonic stem cell:	n/a	chr13:89911416-89911431 chr13:89911417-89911428 chr13:89911416-89911432 chr13:89911416-89911427 chr13:89911415-89911429 chr13:89911416-89911427
28	MAFK	chr13:89925587-89925755	HepG2	liver:	n/a	chr13:89925687-89925702
29	MAFK	chr13:89925625-89925751	HepG2	liver:	n/a	chr13:89925687-89925702
30	MAFK	chr13:89908206-89908436	K562	blood:	n/a	chr13:89908290-89908305
31	MAFK	chr13:89911253-89911609	HepG2	liver:	n/a	chr13:89911416-89911431 chr13:89911417-89911428 chr13:89911416-89911432 chr13:89911416-89911427 chr13:89911415-89911429 chr13:89911416-89911427
32	MAFK	chr13:89908201-89908447	Hela-S3	cervix:	n/a	chr13:89908290-89908305
33	MAFK	chr13:89911260-89911584	HepG2	liver:	n/a	chr13:89911416-89911431 chr13:89911417-89911428 chr13:89911416-89911432 chr13:89911416-89911427 chr13:89911415-89911429 chr13:89911416-89911427
34	POLR2A	chr13:89925521-89925868	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr13:89926890-89926925	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr13:89909123-89909143	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr13:89925437-89925798	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr13:89926867-89926927	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr13:89921952-89922426	SK-N-MC	brain:	n/a	n/a
40	SETDB1	chr13:89912998-89913274	U2OS	brain:	n/a	n/a
41	SETDB1	chr13:89909845-89910907	U2OS	brain:	n/a	n/a
42	STAT3	chr13:89919978-89920400	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr13:89919983-89920392	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr13:89909438-89909638	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr13:89921824-89922024	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr13:89919916-89920543	MCF10A-Er-Src	breast:	n/a	n/a
47	TCF12	chr13:89922007-89922359	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:89905075..89907672-chr13:89908780..89911039,2	K562	blood:
2	chr13:89905075..89907672-chr13:89908780..89911039,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-9	chr13:89925457-89925616	XLOC_010467

Variant related genes	Relation type
LINC00440	TF binding region
TRIM60P13	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs314576	chr13:89908008-89908009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78327190	chr13:89908010-89908011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182994442	chr13:89908011-89908012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559226016	chr13:89908015-89908016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575944497	chr13:89908035-89908036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531579383	chr13:89908062-89908063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577074999	chr13:89908065-89908066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371906656	chr13:89908126-89908127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542178246	chr13:89908149-89908150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369463872	chr13:89908158-89908159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548563580	chr13:89908171-89908172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544411137	chr13:89908230-89908231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34949446	chr13:89908234-89908235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376483372	chr13:89908248-89908249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs314577	chr13:89908281-89908282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530227447	chr13:89908285-89908286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371596774	chr13:89908301-89908302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs314578	chr13:89908325-89908326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368874135	chr13:89908368-89908369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539919831	chr13:89908378-89908379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551856600	chr13:89908428-89908429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570736062	chr13:89908447-89908448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372620804	chr13:89908472-89908473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547579978	chr13:89908475-89908476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs314579	chr13:89908488-89908489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550097788	chr13:89908492-89908493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373179040	chr13:89908550-89908551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150162139	chr13:89908599-89908600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550175697	chr13:89908626-89908627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564340083	chr13:89908746-89908747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535631501	chr13:89908754-89908755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555062586	chr13:89908755-89908756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533292935	chr13:89908762-89908763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541732007	chr13:89908766-89908767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368668724	chr13:89908769-89908770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566824990	chr13:89908783-89908784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556522662	chr13:89908899-89908900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558638110	chr13:89908902-89908903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs734050	chr13:89908941-89908942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566161731	chr13:89908956-89908957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200738513	chr13:89908965-89908966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78911279	chr13:89908969-89908970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544549400	chr13:89908978-89908979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138670309	chr13:89908979-89908980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs314527	chr13:89919857-89919858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574178362	chr13:89919866-89919867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564610529	chr13:89919883-89919884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531985938	chr13:89919904-89919905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550269743	chr13:89919992-89919993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185841059	chr13:89920037-89920038	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	16651412	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89908000-89909000	Enhancers	Fetal Heart	heart
2	chr13:89919800-89920400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr13:89920000-89920400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:89920000-89920400	Enhancers	HMEC	breast
5	chr13:89920200-89920400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:89920200-89920600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:89920200-89920600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:89920600-89921600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:89921800-89922200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:89922200-89922400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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