Variant report

Variant	nsv983931
Chromosome Location	chr14:24234281-24242258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:24238632-24238788	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:24235901-24236331	MCF-7	breast:	n/a	n/a
3	CEBPB	chr14:24238521-24238880	MCF-7	breast:	n/a	n/a
4	CTCF	chr14:24238602-24238729	Gliobla	brain:	n/a	n/a
5	CTCF	chr14:24238640-24238790	NHEK	skin:	n/a	n/a
6	CTCF	chr14:24238616-24238813	Fibrobl	skin:	n/a	n/a
7	CTCF	chr14:24238660-24238810	AG04449	skin:	n/a	n/a
8	CTCF	chr14:24238636-24238724	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:24238574-24238793	A549	lung:	n/a	n/a
10	CTCF	chr14:24238580-24238730	MCF-7	breast:	n/a	n/a
11	CTCF	chr14:24238642-24238729	HepG2	liver:	n/a	n/a
12	CTCF	chr14:24238628-24238710	ProgFib	skin:	n/a	n/a
13	CTCF	chr14:24238616-24238747	K562	blood:	n/a	n/a
14	CTCF	chr14:24238589-24238797	MCF-7	breast:	n/a	n/a
15	CTCF	chr14:24238620-24238770	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr14:24238574-24238795	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:24238640-24238790	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr14:24238662-24238758	MCF-7	breast:	n/a	n/a
19	CTCF	chr14:24238580-24238770	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr14:24238600-24238750	HepG2	liver:	n/a	n/a
21	CTCF	chr14:24238611-24238774	A549	lung:	n/a	n/a
22	CTCF	chr14:24238602-24238807	HepG2	liver:	n/a	n/a
23	CTCF	chr14:24238606-24238815	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:24238640-24238790	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:24238560-24238710	WERI-Rb-1	eye:	n/a	n/a
26	FOXA1	chr14:24235915-24236296	HepG2	liver:	n/a	chr14:24236141-24236156
27	FOXA1	chr14:24235891-24236400	HepG2	liver:	n/a	chr14:24236141-24236156
28	FOXA2	chr14:24235982-24236303	HepG2	liver:	n/a	n/a
29	MYC	chr14:24238502-24238645	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr14:24238645-24238684	MCF-7	breast:	n/a	n/a
31	MYC	chr14:24238702-24238719	MCF-7	breast:	n/a	n/a
32	NR2F2	chr14:24235850-24236455	MCF-7	breast:	n/a	n/a
33	POLR2A	chr14:24238706-24238718	MCF-7	breast:	n/a	n/a
34	RAD21	chr14:24238526-24238850	HepG2	liver:	n/a	chr14:24238838-24238847
35	RAD21	chr14:24238535-24238828	HepG2	liver:	n/a	n/a
36	RAD21	chr14:24238595-24238788	SK-N-SH_RA	brain:	n/a	n/a
37	ZNF384	chr14:24238047-24238106	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24223891..24226209-chr14:24241894..24243838,2	MCF-7	breast:
2	chr14:24238806..24241298-chr14:24549132..24551740,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHRS2-5	chr14:24237408-24238207	NONHSAT035945
2	lnc-DHRS2-5	chr14:24236871-24237083	NONHSAT035945

No data

Variant related genes	Relation type
ENSG00000270618	TF binding region
ENSG00000129535	chromatin interactions

Extended variants
information (count: 292 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189559253	chr14:24234286-24234287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373917803	chr14:24234309-24234310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530117355	chr14:24234316-24234317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547043770	chr14:24234323-24234324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566767671	chr14:24234337-24234338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546304100	chr14:24234338-24234339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs5807230	chr14:24234372-24234373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76848877	chr14:24234375-24234376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537275126	chr14:24234394-24234395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9323367	chr14:24234400-24234401	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs964649	chr14:24234448-24234449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183249210	chr14:24234472-24234473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77708644	chr14:24234545-24234546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535978154	chr14:24234570-24234571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74036860	chr14:24234585-24234586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530211542	chr14:24234591-24234592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80240612	chr14:24234629-24234630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187948347	chr14:24234638-24234639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565276496	chr14:24234657-24234658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7147835	chr14:24234677-24234678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141002045	chr14:24234693-24234694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7143320	chr14:24234717-24234718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117627814	chr14:24234719-24234720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562660688	chr14:24234749-24234750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372821861	chr14:24234798-24234799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560590063	chr14:24234826-24234827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532599047	chr14:24234828-24234829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552597937	chr14:24234846-24234847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571591298	chr14:24234867-24234868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537363031	chr14:24234870-24234871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114459069	chr14:24234890-24234891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190862406	chr14:24234949-24234950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183585478	chr14:24234977-24234978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60075531	chr14:24234985-24234986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552839507	chr14:24235001-24235002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368656841	chr14:24235027-24235028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370760547	chr14:24235065-24235066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58034450	chr14:24235083-24235084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538279893	chr14:24235127-24235128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7153076	chr14:24235212-24235213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144724691	chr14:24235220-24235221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35752873	chr14:24235283-24235284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548395587	chr14:24235313-24235314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529713120	chr14:24235354-24235355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79083946	chr14:24235365-24235366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570315270	chr14:24235376-24235377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555203705	chr14:24235390-24235391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11845546	chr14:24235420-24235421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs8015642	chr14:24235459-24235460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7147007	chr14:24235493-24235494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24232600-24234400	Enhancers	Liver	Liver
2	chr14:24234400-24235200	Weak transcription	Liver	Liver
3	chr14:24235200-24237200	Enhancers	Liver	Liver
4	chr14:24237200-24238400	Weak transcription	Liver	Liver
5	chr14:24238400-24238800	Enhancers	Liver	Liver
6	chr14:24238600-24238800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links