Variant report

Variant	nsv899957
Chromosome Location	chr13:29720732-29820422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:212 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr13:29770447-29771340	GM12878	blood:	n/a	n/a
2	ATF2	chr13:29770565-29771193	GM12878	blood:	n/a	n/a
3	BACH1	chr13:29736777-29737100	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr13:29770570-29770891	GM12878	blood:	n/a	n/a
5	BATF	chr13:29770952-29771203	GM12878	blood:	n/a	n/a
6	BATF	chr13:29770933-29771161	GM12878	blood:	n/a	n/a
7	BATF	chr13:29770583-29770842	GM12878	blood:	n/a	n/a
8	BCL11A	chr13:29770927-29771261	GM12878	blood:	n/a	n/a
9	BCL11A	chr13:29770567-29770900	GM12878	blood:	n/a	n/a
10	BCLAF1	chr13:29770739-29771241	GM12878	blood:	n/a	n/a
11	BHLHE40	chr13:29770875-29771067	GM12878	blood:	n/a	n/a
12	CEBPB	chr13:29760199-29760293	K562	blood:	n/a	n/a
13	CEBPB	chr13:29730434-29730705	IMR90	lung:	n/a	chr13:29730580-29730589 chr13:29730578-29730591 chr13:29730578-29730591 chr13:29730579-29730590 chr13:29730578-29730589
14	CEBPB	chr13:29730428-29730731	HepG2	liver:	n/a	chr13:29730580-29730589 chr13:29730578-29730591 chr13:29730578-29730591 chr13:29730579-29730590 chr13:29730578-29730589
15	CEBPB	chr13:29770583-29771281	GM12878	blood:	n/a	n/a
16	CEBPB	chr13:29801819-29802072	Hela-S3	cervix:	n/a	chr13:29801920-29801933 chr13:29801920-29801933
17	CEBPB	chr13:29730509-29730754	A549	lung:	n/a	chr13:29730580-29730589 chr13:29730578-29730591 chr13:29730578-29730591 chr13:29730579-29730590 chr13:29730578-29730589
18	CEBPB	chr13:29765958-29765997	IMR90	lung:	n/a	chr13:29765973-29765984 chr13:29765973-29765982
19	CEBPD	chr13:29760161-29760488	K562	blood:	n/a	n/a
20	CTCF	chr13:29789872-29790007	MCF-7	breast:	n/a	n/a
21	CTCF	chr13:29789877-29790003	MCF-7	breast:	n/a	n/a
22	CTCF	chr13:29783387-29783468	GM13976	blood:	n/a	n/a
23	CTCF	chr13:29789888-29790003	HepG2	liver:	n/a	n/a
24	CTCF	chr13:29769787-29769843	MCF-7	breast:	n/a	n/a
25	CTCF	chr13:29771300-29771450	GM12865	blood:	n/a	n/a
26	CTCF	chr13:29769752-29769866	MCF-7	breast:	n/a	n/a
27	CTCF	chr13:29735944-29735995	MCF-7	breast:	n/a	n/a
28	CTCF	chr13:29796840-29796990	GM12871	blood:	n/a	n/a
29	CTCF	chr13:29769754-29769864	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr13:29796900-29797050	GM12875	blood:	n/a	n/a
31	CTCF	chr13:29789898-29789997	K562	blood:	n/a	n/a
32	CTCF	chr13:29789874-29790008	MCF-7	breast:	n/a	n/a
33	CTCF	chr13:29789868-29790004	MCF-7	breast:	n/a	n/a
34	CTCF	chr13:29781306-29781371	GM20000	blood:	n/a	n/a
35	CTCF	chr13:29769680-29769830	MCF-7	breast:	n/a	n/a
36	CTCF	chr13:29789565-29789665	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr13:29769680-29769830	GM12873	blood:	n/a	n/a
38	CTCF	chr13:29755301-29755402	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr13:29789894-29790002	MCF-7	breast:	n/a	n/a
40	CTCF	chr13:29789569-29789662	GM10248	blood:	n/a	n/a
41	CTCF	chr13:29790106-29790165	Lung_OC	lung:	n/a	n/a
42	CTCF	chr13:29730680-29730737	Fibrobl	skin:	n/a	n/a
43	CTCF	chr13:29755340-29755490	GM12867	blood:	n/a	n/a
44	E2F4	chr13:29791652-29791835	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr13:29759117-29759282	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr13:29742001-29742129	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr13:29749122-29749527	MCF10A-Er-Src	breast:	n/a	n/a
48	EP300	chr13:29770912-29771144	GM12878	blood:	n/a	n/a
49	EP300	chr13:29739920-29740159	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr13:29740080-29740307	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:29754593..29756935-chr13:29798508..29800857,2	K562	blood:
2	chr13:29798482..29800939-chr13:29808529..29811047,2	MCF-7	breast:
3	chr13:29727502..29729251-chr13:29732953..29735104,2	MCF-7	breast:
4	chr13:29754593..29756935-chr13:29798508..29800857,2	K562	blood:
5	chr13:29727502..29729251-chr13:29732953..29735104,2	MCF-7	breast:
6	chr13:29785961..29788916-chr13:29921659..29923397,2	MCF-7	breast:
7	chr13:29798482..29800939-chr13:29808529..29811047,2	MCF-7	breast:

(count:11 , 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	chr13:29816666-29816835	ENSG00000236758.1
3	lnc-SLC7A1-2	chr13:29812407-29813605	NONHSAT032719
4	lnc-SLC7A1-2	chr13:29816666-29816835	ENSG00000236758.1
5	lnc-SLC7A1-2	chr13:29814597-29815023	NONHSAT032724
6	lnc-SLC7A1-2	chr13:29812418-29813605	ucscGeneNc_uc001usu_1
7	lnc-SLC7A1-2	chr13:29813760-29814095	ENSG00000236758.1
8	lnc-SLC7A1-2	chr13:29813924-29814264	ENSG00000236758.1
9	lnc-SLC7A1-8	chr13:29788497-29788771	NONHSAT032717
10	lnc-SLC7A1-8	chr13:29791886-29792040	NONHSAT032717
11	lnc-SLC7A1-2	chr13:29813496-29813733	NONHSAT032720

No data

Variant related genes	Relation type
ENSG00000221670	TF binding region

Extended variants
information (count: 3447 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3447 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1927845	chr13:29720732-29720733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537759762	chr13:29720802-29720803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117332248	chr13:29720813-29720814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563446696	chr13:29720880-29720881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577190563	chr13:29720898-29720899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530831786	chr13:29720929-29720930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191383990	chr13:29720944-29720945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376100926	chr13:29720961-29720962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111994548	chr13:29720973-29720974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553538458	chr13:29721011-29721012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573051726	chr13:29721029-29721030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189479488	chr13:29721031-29721032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561952269	chr13:29721038-29721039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369375827	chr13:29721040-29721041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532535994	chr13:29721059-29721060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370403433	chr13:29721078-29721079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181170186	chr13:29721095-29721096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544495066	chr13:29721135-29721136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563895540	chr13:29721186-29721187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532980309	chr13:29721199-29721200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150333294	chr13:29721206-29721207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372539622	chr13:29721232-29721233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570308069	chr13:29721239-29721240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137979211	chr13:29721251-29721252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186403937	chr13:29721289-29721290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75885128	chr13:29721307-29721308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374363670	chr13:29721318-29721319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557649985	chr13:29721343-29721344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75622836	chr13:29721370-29721371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539868755	chr13:29721391-29721392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553499602	chr13:29721402-29721403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147194306	chr13:29721456-29721457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138789729	chr13:29721457-29721458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555551010	chr13:29721560-29721561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142913215	chr13:29721566-29721567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544165446	chr13:29721567-29721568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190077768	chr13:29721612-29721613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368263597	chr13:29721653-29721654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577564411	chr13:29721659-29721660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543848809	chr13:29721676-29721677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368959467	chr13:29721721-29721722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115212340	chr13:29721724-29721725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559727811	chr13:29721726-29721727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117350966	chr13:29721735-29721736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181711109	chr13:29721780-29721781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562107974	chr13:29721828-29721829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564939071	chr13:29721846-29721847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531168212	chr13:29721859-29721860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550969260	chr13:29721878-29721879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571169101	chr13:29721896-29721897	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:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29715000-29723800	Weak transcription	Aorta	Aorta
2	chr13:29716000-29727800	Weak transcription	Fetal Heart	heart
3	chr13:29726600-29727200	ZNF genes & repeats	Dnd41	blood
4	chr13:29727200-29734200	Weak transcription	Dnd41	blood
5	chr13:29727800-29729000	Enhancers	Fetal Heart	heart
6	chr13:29729000-29730200	Weak transcription	Fetal Heart	heart
7	chr13:29730200-29730800	Enhancers	Fetal Heart	heart
8	chr13:29730800-29735200	Weak transcription	Fetal Heart	heart
9	chr13:29734000-29734400	Enhancers	Aorta	Aorta
10	chr13:29734200-29735400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr13:29734200-29736400	Enhancers	Dnd41	blood
12	chr13:29734400-29752600	Weak transcription	Aorta	Aorta
13	chr13:29735200-29735600	Enhancers	Fetal Heart	heart
14	chr13:29735400-29739200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr13:29735600-29735800	Weak transcription	Fetal Heart	heart
16	chr13:29735800-29736000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:29735800-29736000	Enhancers	Fetal Heart	heart
18	chr13:29735800-29736200	Enhancers	Gastric	stomach
19	chr13:29735800-29736800	Enhancers	Brain Cingulate Gyrus	brain
20	chr13:29735800-29737000	Enhancers	GM12878-XiMat	blood
21	chr13:29736000-29737200	Enhancers	Brain Substantia Nigra	brain
22	chr13:29736000-29739600	Weak transcription	Fetal Heart	heart
23	chr13:29736600-29737200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr13:29736800-29737200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:29736800-29737200	Active TSS	A549	lung
26	chr13:29737000-29739400	Weak transcription	GM12878-XiMat	blood
27	chr13:29738200-29738600	Enhancers	Fetal Stomach	stomach
28	chr13:29738600-29743800	Weak transcription	Fetal Stomach	stomach
29	chr13:29739200-29740600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr13:29739200-29740800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr13:29739400-29740600	Enhancers	GM12878-XiMat	blood
32	chr13:29739600-29740200	Enhancers	Fetal Heart	heart
33	chr13:29740200-29742600	Weak transcription	Fetal Heart	heart
34	chr13:29742600-29744000	Enhancers	Fetal Heart	heart
35	chr13:29743800-29745000	Enhancers	Fetal Lung	lung
36	chr13:29743800-29745000	Enhancers	Fetal Stomach	stomach
37	chr13:29744000-29744200	Flanking Active TSS	Fetal Heart	heart
38	chr13:29744000-29744400	Enhancers	Fetal Kidney	kidney
39	chr13:29744000-29744800	Enhancers	Right Atrium	heart
40	chr13:29744200-29745000	Enhancers	Left Ventricle	heart
41	chr13:29744200-29745000	Enhancers	Right Ventricle	heart
42	chr13:29744200-29745600	Enhancers	Fetal Heart	heart
43	chr13:29744800-29745400	Enhancers	Dnd41	blood
44	chr13:29745400-29747000	Weak transcription	Dnd41	blood
45	chr13:29745600-29752400	Weak transcription	Fetal Heart	heart
46	chr13:29747000-29750000	Enhancers	Dnd41	blood
47	chr13:29748200-29748600	Enhancers	Primary T cells from cord blood	blood
48	chr13:29748600-29750000	Enhancers	Brain Germinal Matrix	brain
49	chr13:29749200-29749400	Enhancers	Liver	Liver
50	chr13:29749400-29749800	Flanking Active TSS	Liver	Liver

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