Variant report

Variant	nsv899959
Chromosome Location	chr13:29752497-29832613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:156)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:156 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr13:29770565-29771193	GM12878	blood:	n/a	n/a
2	ATF2	chr13:29770447-29771340	GM12878	blood:	n/a	n/a
3	BATF	chr13:29770952-29771203	GM12878	blood:	n/a	n/a
4	BATF	chr13:29770933-29771161	GM12878	blood:	n/a	n/a
5	BATF	chr13:29770570-29770891	GM12878	blood:	n/a	n/a
6	BATF	chr13:29770583-29770842	GM12878	blood:	n/a	n/a
7	BCL11A	chr13:29770927-29771261	GM12878	blood:	n/a	n/a
8	BCL11A	chr13:29770567-29770900	GM12878	blood:	n/a	n/a
9	BCLAF1	chr13:29770739-29771241	GM12878	blood:	n/a	n/a
10	BHLHE40	chr13:29770875-29771067	GM12878	blood:	n/a	n/a
11	CEBPB	chr13:29760199-29760293	K562	blood:	n/a	n/a
12	CEBPB	chr13:29801819-29802072	Hela-S3	cervix:	n/a	chr13:29801920-29801933 chr13:29801920-29801933
13	CEBPB	chr13:29825553-29825702	IMR90	lung:	n/a	chr13:29825627-29825638
14	CEBPB	chr13:29765958-29765997	IMR90	lung:	n/a	chr13:29765973-29765984 chr13:29765973-29765982
15	CEBPB	chr13:29770583-29771281	GM12878	blood:	n/a	n/a
16	CEBPB	chr13:29825486-29825750	HepG2	liver:	n/a	chr13:29825627-29825638
17	CEBPB	chr13:29824577-29824694	A549	lung:	n/a	n/a
18	CEBPD	chr13:29760161-29760488	K562	blood:	n/a	n/a
19	CTCF	chr13:29789894-29790002	MCF-7	breast:	n/a	n/a
20	CTCF	chr13:29796900-29797050	GM12875	blood:	n/a	n/a
21	CTCF	chr13:29769752-29769866	MCF-7	breast:	n/a	n/a
22	CTCF	chr13:29789868-29790004	MCF-7	breast:	n/a	n/a
23	CTCF	chr13:29755301-29755402	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr13:29769680-29769830	MCF-7	breast:	n/a	n/a
25	CTCF	chr13:29789565-29789665	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr13:29769680-29769830	GM12873	blood:	n/a	n/a
27	CTCF	chr13:29789877-29790003	MCF-7	breast:	n/a	n/a
28	CTCF	chr13:29790106-29790165	Lung_OC	lung:	n/a	n/a
29	CTCF	chr13:29789888-29790003	HepG2	liver:	n/a	n/a
30	CTCF	chr13:29796840-29796990	GM12871	blood:	n/a	n/a
31	CTCF	chr13:29783387-29783468	GM13976	blood:	n/a	n/a
32	CTCF	chr13:29827081-29827162	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr13:29769754-29769864	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr13:29789569-29789662	GM10248	blood:	n/a	n/a
35	CTCF	chr13:29789874-29790008	MCF-7	breast:	n/a	n/a
36	CTCF	chr13:29755340-29755490	GM12867	blood:	n/a	n/a
37	CTCF	chr13:29789872-29790007	MCF-7	breast:	n/a	n/a
38	CTCF	chr13:29769787-29769843	MCF-7	breast:	n/a	n/a
39	CTCF	chr13:29789898-29789997	K562	blood:	n/a	n/a
40	CTCF	chr13:29771300-29771450	GM12865	blood:	n/a	n/a
41	CTCF	chr13:29781306-29781371	GM20000	blood:	n/a	n/a
42	CUX1	chr13:29831009-29831011	GM12878	blood:	n/a	n/a
43	E2F4	chr13:29791652-29791835	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr13:29759117-29759282	MCF10A-Er-Src	breast:	n/a	n/a
45	EP300	chr13:29770912-29771144	GM12878	blood:	n/a	n/a
46	FOS	chr13:29801818-29802055	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr13:29756438-29756642	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr13:29762762-29762861	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr13:29801836-29802068	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr13:29801830-29802042	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:29798482..29800939-chr13:29808529..29811047,2	MCF-7	breast:
2	chr13:29754593..29756935-chr13:29798508..29800857,2	K562	blood:
3	chr13:29785961..29788916-chr13:29921659..29923397,2	MCF-7	breast:
4	chr13:29754593..29756935-chr13:29798508..29800857,2	K562	blood:
5	chr13:29798482..29800939-chr13:29808529..29811047,2	MCF-7	breast:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC7A1-2	chr13:29813516-29814095	ENSG00000236758.1
2	lnc-SLC7A1-2	chr13:29830391-29830513	NONHSAT032724
3	lnc-SLC7A1-2	chr13:29812407-29813605	NONHSAT032719
4	lnc-SLC7A1-8	chr13:29791886-29792040	NONHSAT032717
5	lnc-SLC7A1-2	chr13:29830391-29830513	NONHSAT032726
6	lnc-SLC7A1-2	chr13:29829402-29829529	NONHSAT032725
7	lnc-SLC7A1-2	chr13:29816666-29816835	ENSG00000236758.1
8	lnc-SLC7A1-2	chr13:29814597-29815023	NONHSAT032724
9	lnc-SLC7A1-2	chr13:29812418-29813605	ucscGeneNc_uc001usu_1
10	lnc-SLC7A1-2	chr13:29829879-29830026	NONHSAT032726
11	lnc-SLC7A1-2	chr13:29824552-29824691	ENSG00000236758.1
12	lnc-SLC7A1-2	chr13:29813496-29813733	NONHSAT032720
13	lnc-SLC7A1-2	chr13:29813760-29814095	ENSG00000236758.1
14	lnc-SLC7A1-8	chr13:29788497-29788771	NONHSAT032717
15	lnc-SLC7A1-2	chr13:29824552-29824691	ENSG00000236758.1
16	lnc-SLC7A1-2	chr13:29824552-29824691	ENSG00000236758.1
17	lnc-SLC7A1-2	chr13:29829879-29830026	NONHSAT032725
18	lnc-SLC7A1-2	chr13:29813924-29814264	ENSG00000236758.1
19	lnc-SLC7A1-2	chr13:29830391-29830513	NONHSAT032725
20	lnc-SLC7A1-2	chr13:29816666-29816835	ENSG00000236758.1

No data

Variant related genes	Relation type
MTUS2-AS2	TF binding region
ENSG00000221670	TF binding region

Extended variants
information (count: 2732 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2732 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17072891	chr13:29752497-29752498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568272609	chr13:29752524-29752525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76278067	chr13:29752548-29752549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183184729	chr13:29752583-29752584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550499941	chr13:29752588-29752589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149206641	chr13:29752638-29752639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539003045	chr13:29752641-29752642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375396381	chr13:29752642-29752643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188722357	chr13:29752646-29752647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369165144	chr13:29752680-29752681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566413418	chr13:29752717-29752718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35251425	chr13:29752739-29752740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554843353	chr13:29752751-29752752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11361210	chr13:29752781-29752782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575023400	chr13:29752806-29752807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192426177	chr13:29752830-29752831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7329581	chr13:29752831-29752832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557648530	chr13:29752832-29752833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565827555	chr13:29752995-29752996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552957878	chr13:29753013-29753014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534756770	chr13:29753038-29753039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9508305	chr13:29753054-29753055	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542353472	chr13:29753076-29753077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557151410	chr13:29753089-29753090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542353346	chr13:29753118-29753119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561721835	chr13:29753137-29753138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9508306	chr13:29753146-29753147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546105409	chr13:29753150-29753151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377000766	chr13:29753193-29753194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142456704	chr13:29753216-29753217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570386545	chr13:29753231-29753232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570370346	chr13:29753234-29753235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533075713	chr13:29753242-29753243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9508307	chr13:29753269-29753270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369509835	chr13:29753272-29753273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9508308	chr13:29753278-29753279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7335449	chr13:29753300-29753301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140656741	chr13:29753403-29753404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183959551	chr13:29753424-29753425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9579301	chr13:29753427-29753428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115416210	chr13:29753524-29753525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145827978	chr13:29753550-29753551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540164714	chr13:29753577-29753578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553397536	chr13:29753595-29753596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12858732	chr13:29753602-29753603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146445490	chr13:29753656-29753657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187729845	chr13:29753707-29753708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76523532	chr13:29753773-29753774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376380587	chr13:29753776-29753777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575672237	chr13:29753782-29753783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29734400-29752600	Weak transcription	Aorta	Aorta
2	chr13:29752400-29753200	Enhancers	Fetal Heart	heart
3	chr13:29752600-29752800	Enhancers	Aorta	Aorta
4	chr13:29753200-29765000	Weak transcription	Fetal Heart	heart
5	chr13:29760000-29760200	Enhancers	Aorta	Aorta
6	chr13:29760200-29761000	ZNF genes & repeats	Dnd41	blood
7	chr13:29760600-29763800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:29760800-29761200	Enhancers	Liver	Liver
9	chr13:29761000-29761400	Enhancers	Dnd41	blood
10	chr13:29761400-29761800	Flanking Active TSS	Dnd41	blood
11	chr13:29761800-29762000	Enhancers	Dnd41	blood
12	chr13:29762000-29762800	Weak transcription	Aorta	Aorta
13	chr13:29762800-29763000	Enhancers	Aorta	Aorta
14	chr13:29763000-29775600	Weak transcription	Aorta	Aorta
15	chr13:29763800-29764200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr13:29765000-29767600	Enhancers	Fetal Heart	heart
17	chr13:29765600-29766000	Enhancers	Fetal Muscle Trunk	muscle
18	chr13:29767600-29769800	Weak transcription	Fetal Heart	heart
19	chr13:29769600-29771000	Enhancers	GM12878-XiMat	blood
20	chr13:29769800-29770200	Enhancers	Fetal Heart	heart
21	chr13:29769800-29771000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr13:29769800-29771200	Enhancers	Primary B cells from peripheral blood	blood
23	chr13:29783800-29784200	Weak transcription	Fetal Heart	heart
24	chr13:29784200-29785000	Enhancers	Fetal Heart	heart
25	chr13:29784600-29785400	Enhancers	Dnd41	blood
26	chr13:29785400-29785600	Flanking Active TSS	Dnd41	blood
27	chr13:29785600-29785800	Enhancers	Dnd41	blood
28	chr13:29785800-29786200	Flanking Active TSS	Dnd41	blood
29	chr13:29786200-29787600	Enhancers	Dnd41	blood
30	chr13:29794600-29794800	Enhancers	Aorta	Aorta
31	chr13:29794800-29797400	Weak transcription	Aorta	Aorta
32	chr13:29795000-29795600	Enhancers	Fetal Heart	heart
33	chr13:29795600-29797600	Weak transcription	Fetal Heart	heart
34	chr13:29796600-29797000	Enhancers	Fetal Muscle Trunk	muscle
35	chr13:29796600-29798200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:29796600-29798400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:29796800-29798400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr13:29796800-29798400	ZNF genes & repeats	Dnd41	blood
39	chr13:29797000-29797200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr13:29797000-29797800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr13:29797000-29798400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr13:29797200-29798200	ZNF genes & repeats	Liver	Liver
43	chr13:29797200-29798200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
44	chr13:29797400-29798200	ZNF genes & repeats	Brain Anterior Caudate	brain
45	chr13:29797400-29798400	ZNF genes & repeats	Aorta	Aorta
46	chr13:29797600-29798000	Active TSS	Colon Smooth Muscle	Colon
47	chr13:29797600-29798200	ZNF genes & repeats	Fetal Heart	heart
48	chr13:29797600-29798200	ZNF genes & repeats	Fetal Stomach	stomach
49	chr13:29798000-29798200	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr13:29798000-29799400	Enhancers	Rectal Smooth Muscle	rectum

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