Variant report

Variant	nsv823138
Chromosome Location	chr5:93903772-93906274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:116 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:93903510-93903893	GM12878	blood:	n/a	n/a
2	BATF	chr5:93905010-93905392	GM12878	blood:	n/a	n/a
3	BATF	chr5:93903523-93903801	GM12878	blood:	n/a	n/a
4	BATF	chr5:93904917-93905390	GM12878	blood:	n/a	n/a
5	BATF	chr5:93904840-93904991	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:93904917-93905385	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:93903626-93904174	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:93903567-93903780	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:93904555-93905402	GM12878	blood:	n/a	n/a
10	BHLHE40	chr5:93903526-93903933	HepG2	liver:	n/a	n/a
11	BHLHE40	chr5:93904828-93905314	HepG2	liver:	n/a	n/a
12	BHLHE40	chr5:93904575-93904821	HepG2	liver:	n/a	n/a
13	BHLHE40	chr5:93903937-93904215	HepG2	liver:	n/a	n/a
14	BRCA1	chr5:93905504-93905513	GM12878	blood:	n/a	n/a
15	CEBPD	chr5:93904908-93905441	K562	blood:	n/a	n/a
16	CTCF	chr5:93904987-93905298	K562	blood:	n/a	n/a
17	EBF1	chr5:93905016-93905385	GM12878	blood:	n/a	n/a
18	EBF1	chr5:93905008-93905392	GM12878	blood:	n/a	n/a
19	EP300	chr5:93905018-93905322	GM12878	blood:	n/a	n/a
20	EP300	chr5:93904818-93905448	GM12878	blood:	n/a	n/a
21	FOSL2	chr5:93905004-93905417	HepG2	liver:	n/a	n/a
22	FOSL2	chr5:93904551-93905333	HepG2	liver:	n/a	n/a
23	FOSL2	chr5:93903526-93903933	HepG2	liver:	n/a	n/a
24	FOXA1	chr5:93904812-93905328	HepG2	liver:	n/a	n/a
25	FOXM1	chr5:93904784-93905522	GM12878	blood:	n/a	n/a
26	FOXP2	chr5:93903901-93904129	PFSK-1	brain:	n/a	n/a
27	FOXP2	chr5:93905027-93905276	SK-N-MC	brain:	n/a	n/a
28	FOXP2	chr5:93905030-93905274	PFSK-1	brain:	n/a	n/a
29	GABPA	chr5:93905031-93905255	Hela-S3	cervix:	n/a	n/a
30	GABPA	chr5:93905010-93905311	Hela-S3	cervix:	n/a	n/a
31	GATA2	chr5:93904916-93905425	K562	blood:	n/a	n/a
32	HEY1	chr5:93904854-93904970	HepG2	liver:	n/a	n/a
33	HEY1	chr5:93905027-93905275	HepG2	liver:	n/a	n/a
34	HEY1	chr5:93904826-93905426	HepG2	liver:	n/a	n/a
35	HEY1	chr5:93904923-93905288	K562	blood:	n/a	n/a
36	HEY1	chr5:93903620-93903804	HepG2	liver:	n/a	n/a
37	HEY1	chr5:93904565-93904823	HepG2	liver:	n/a	n/a
38	HEY1	chr5:93903811-93904171	HepG2	liver:	n/a	n/a
39	IRF4	chr5:93904810-93905420	GM12878	blood:	n/a	n/a
40	IRF4	chr5:93904804-93905505	GM12878	blood:	n/a	n/a
41	JUND	chr5:93905011-93905287	HepG2	liver:	n/a	n/a
42	JUND	chr5:93904866-93904966	HepG2	liver:	n/a	n/a
43	JUND	chr5:93905036-93905270	HepG2	liver:	n/a	n/a
44	MYBL2	chr5:93904800-93905346	HepG2	liver:	n/a	n/a
45	NFIC	chr5:93904862-93905508	GM12878	blood:	n/a	n/a
46	PAX5	chr5:93903526-93903799	GM12878	blood:	n/a	n/a
47	PAX5	chr5:93904916-93905413	GM12878	blood:	n/a	n/a
48	PAX5	chr5:93905012-93905315	GM12878	blood:	n/a	n/a
49	PAX5	chr5:93905020-93905335	GM12878	blood:	n/a	n/a
50	PAX5	chr5:93903633-93903775	GM12878	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:93904050-93904100	PFSK-1	brain:	n/a
2	chr5:93904050-93904100	HCPEpiC	choroid plexus:	n/a
3	chr5:93905270-93905320	HMEC	breast:	n/a
4	chr5:93904050-93904100	NHBE	bronchial:	n/a
5	chr5:93904050-93904100	AG09309	skin:	n/a
6	chr5:93904050-93904100	Jurkat	blood:	n/a
7	chr5:93905343-93905393	GM06990	blood:	n/a
8	chr5:93905482-93905532	GM12878	blood:	n/a
9	chr5:93904050-93904100	HRPEpiC	eye:	n/a
10	chr5:93905270-93905320	AG09319	gingival:	n/a
11	chr5:93905482-93905532	Caco-2	colon:	n/a
12	chr5:93905482-93905532	HUVEC	blood vessel:	n/a
13	chr5:93905482-93905532	SK-N-SH	brain:	n/a
14	chr5:93905257-93905307	ovcar-3	ovarian:	n/a
15	chr5:93905343-93905393	Hela-S3	cervix:	n/a
16	chr5:93905427-93905477	GM12891	blood:	n/a
17	chr5:93905482-93905532	NB4	blood:	n/a
18	chr5:93905358-93905408	HMEC	breast:	n/a
19	chr5:93905358-93905408	MCF-7	breast:	n/a
20	chr5:93905257-93905307	RPTEC	kidney:	n/a
21	chr5:93905270-93905320	NT2-D1	testis:	n/a
22	chr5:93905343-93905393	HEEpiC	esophagus:	n/a
23	chr5:93905427-93905477	SK-N-MC	brain:	n/a
24	chr5:93905270-93905320	SK-N-MC	brain:	n/a
25	chr5:93905270-93905320	U87	brain:	n/a
26	chr5:93905343-93905393	GM12891	blood:	n/a
27	chr5:93905427-93905477	SAEC	small airway:	n/a
28	chr5:93905482-93905532	Jurkat	blood:	n/a
29	chr5:93905257-93905307	HEK293	kidney:	embryo
30	chr5:93905343-93905393	SK-N-SH_RA	brain:	n/a
31	chr5:93905257-93905307	HNPCEpiC	eye:	n/a
32	chr5:93904050-93904100	HCT-116	colon:	n/a
33	chr5:93905257-93905307	MCF-7	breast:	n/a
34	chr5:93905427-93905477	AG09319	gingival:	n/a
35	chr5:93905257-93905307	NHBE	bronchial:	n/a
36	chr5:93905358-93905408	A549	lung:	n/a
37	chr5:93905482-93905532	K562	blood:	n/a
38	chr5:93905427-93905477	HAEpiC	amniotic membrane:	n/a
39	chr5:93905358-93905408	PFSK-1	brain:	n/a
40	chr5:93905358-93905408	Jurkat	blood:	n/a
41	chr5:93905257-93905307	HCF	heart:	n/a
42	chr5:93905358-93905408	GM12892	blood:	n/a
43	chr5:93905358-93905408	RPTEC	kidney:	n/a
44	chr5:93905358-93905408	NHDF-neo	bronchial:	n/a
45	chr5:93905482-93905532	HEEpiC	esophagus:	n/a
46	chr5:93905427-93905477	U87	brain:	n/a
47	chr5:93905482-93905532	PANC-1	pancreas:	n/a
48	chr5:93905427-93905477	HRPEpiC	eye:	n/a
49	chr5:93905482-93905532	RPTEC	kidney:	n/a
50	chr5:93905343-93905393	Hepatocyte	liver:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCTP1-2	chr5:93904634-93905175	NONHSAT102821

No data

Variant related genes	Relation type
MTND6P3	TF binding region
ENSG00000251340	TF binding region
MTND6P3	CpG island
ENSG00000251340	CpG island

Extended variants
information (count: 173 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184241058	chr5:93903775-93903776	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs114365608	chr5:93903782-93903783	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs567234192	chr5:93903787-93903788	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs536376096	chr5:93903806-93903807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs78589243	chr5:93903858-93903859	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs147018032	chr5:93903865-93903866	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs141757486	chr5:93903904-93903905	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150631191	chr5:93903905-93903906	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs558035799	chr5:93903934-93903935	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs76120685	chr5:93903936-93903937	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs375920465	chr5:93903995-93903996	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs79370306	chr5:93903996-93903997	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs77835033	chr5:93904035-93904036	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs80171398	chr5:93904047-93904048	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs139542237	chr5:93904051-93904052	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs543146812	chr5:93904078-93904079	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs79375638	chr5:93904080-93904081	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs55682135	chr5:93904097-93904098	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs113668789	chr5:93904119-93904120	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs561561892	chr5:93904126-93904127	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs111850545	chr5:93904134-93904135	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs556353004	chr5:93904159-93904160	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs75572790	chr5:93904210-93904211	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs75508059	chr5:93904211-93904212	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs148759546	chr5:93904212-93904213	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs142405557	chr5:93904229-93904230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs565193597	chr5:93904231-93904232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs74665783	chr5:93904239-93904240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs79526404	chr5:93904242-93904243	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77081132	chr5:93904244-93904245	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs527617708	chr5:93904248-93904249	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs76188721	chr5:93904317-93904318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75667654	chr5:93904332-93904333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73773684	chr5:93904353-93904354	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77113739	chr5:93904384-93904385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs150950290	chr5:93904390-93904391	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569065254	chr5:93904391-93904392	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs575050607	chr5:93904392-93904393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs531812031	chr5:93904509-93904510	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs551627018	chr5:93904517-93904518	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs74607802	chr5:93904552-93904553	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs566680526	chr5:93904562-93904563	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs77158022	chr5:93904572-93904573	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs79821218	chr5:93904587-93904588	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534029503	chr5:93904596-93904597	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs62365666	chr5:93904626-93904627	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs540951367	chr5:93904647-93904648	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs78432187	chr5:93904649-93904650	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs78625140	chr5:93904652-93904653	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs571584946	chr5:93904657-93904658	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93903000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93904200-93908800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:93905400-93906000	ZNF genes & repeats	Aorta	Aorta
4	chr5:93905800-93906600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr5:93906000-93913200	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links