Variant report

Variant	nsv522022
Chromosome Location	chr5:104394274-104435148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:245)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:104428357-104428592	K562	blood:	n/a	n/a
2	CEBPB	chr5:104423448-104423672	K562	blood:	n/a	chr5:104423566-104423577
3	CEBPB	chr5:104423410-104423746	IMR90	lung:	n/a	chr5:104423566-104423577
4	CEBPB	chr5:104423402-104423724	HepG2	liver:	n/a	chr5:104423566-104423577
5	CEBPB	chr5:104432081-104432193	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:104423406-104423707	A549	lung:	n/a	chr5:104423566-104423577
7	CTCF	chr5:104434155-104434241	GM10248	blood:	n/a	n/a
8	CTCF	chr5:104394548-104394560	LNCaP	prostate:	n/a	n/a
9	E2F4	chr5:104399543-104399743	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr5:104423997-104424069	K562	blood:	n/a	n/a
11	FAM48A	chr5:104424879-104425034	GM12878	blood:	n/a	n/a
12	FOS	chr5:104396893-104396977	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr5:104431025-104431134	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr5:104396813-104397065	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr5:104404784-104404926	SH-SY5Y	brain:	n/a	n/a
16	JUND	chr5:104430917-104431144	HepG2	liver:	n/a	chr5:104431059-104431070
17	KAP1	chr5:104428118-104428909	K562	blood:	n/a	n/a
18	KAP1	chr5:104429053-104429459	HEK293	kidney:	n/a	n/a
19	MAX	chr5:104409793-104410041	NB4	blood:	n/a	chr5:104409875-104409885 chr5:104409899-104409909
20	NRF1	chr5:104409970-104409999	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:104423537-104423595	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr5:104396168-104396211	A549	lung:	n/a	n/a
23	POLR2A	chr5:104417823-104417884	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:104407972-104408150	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr5:104425552-104425649	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr5:104396144-104396229	MCF-7	breast:	n/a	n/a
27	POLR2A	chr5:104416922-104416943	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr5:104408006-104408284	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr5:104429392-104429480	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:104434137-104434247	H1-hESC	embryonic stem cell:	n/a	n/a
31	RFX5	chr5:104397930-104397995	K562	blood:	n/a	n/a
32	RFX5	chr5:104423869-104423944	HepG2	liver:	n/a	n/a
33	SETDB1	chr5:104428936-104429626	U2OS	brain:	n/a	n/a
34	STAT3	chr5:104423319-104423358	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr5:104421925-104422093	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr5:104424212-104424412	MCF10A-Er-Src	breast:	n/a	n/a
37	TAL1	chr5:104413511-104413720	K562	blood:	n/a	chr5:104413576-104413594
38	YY1	chr5:104400367-104400664	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZNF143	chr5:104428384-104428530	K562	blood:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104434864-104434914	GM12892	blood:	n/a
2	chr5:104434864-104434914	GM12892	blood:	n/a
3	chr5:104434864-104434914	AoSMC	blood vessel:	n/a
4	chr5:104435062-104435112	GM06990	blood:	n/a
5	chr5:104434827-104434877	AG10803	skin:	n/a
6	chr5:104433849-104433899	HRPEpiC	eye:	n/a
7	chr5:104434864-104434914	HRPEpiC	eye:	n/a
8	chr5:104434864-104434914	GM19239	blood:	n/a
9	chr5:104434827-104434877	ProgFib	skin:	n/a
10	chr5:104433849-104433899	Hela-S3	cervix:	n/a
11	chr5:104434864-104434914	PFSK-1	brain:	n/a
12	chr5:104434827-104434877	AG04449	skin:	fetal
13	chr5:104434827-104434877	ECC-1	luminal epithelium:	n/a
14	chr5:104434827-104434877	HNPCEpiC	eye:	n/a
15	chr5:104433849-104433899	ovcar-3	ovarian:	n/a
16	chr5:104434827-104434877	GM19239	blood:	n/a
17	chr5:104433849-104433899	HAEpiC	amniotic membrane:	n/a
18	chr5:104433849-104433899	ProgFib	skin:	n/a
19	chr5:104434864-104434914	HCM	heart:	n/a
20	chr5:104434864-104434914	T-47D	breast:	n/a
21	chr5:104434827-104434877	SK-N-SH	brain:	n/a
22	chr5:104434827-104434877	NHBE	bronchial:	n/a
23	chr5:104434864-104434914	MCF-7	breast:	n/a
24	chr5:104434827-104434877	NB4	blood:	n/a
25	chr5:104435062-104435112	GM12891	blood:	n/a
26	chr5:104433849-104433899	AG04450	lung:	fetal
27	chr5:104434827-104434877	U87	brain:	n/a
28	chr5:104434827-104434877	GM12892	blood:	n/a
29	chr5:104434864-104434914	HepG2	liver:	n/a
30	chr5:104434864-104434914	NHBE	bronchial:	n/a
31	chr5:104434864-104434914	ovcar-3	ovarian:	n/a
32	chr5:104434864-104434914	BE2_C	brain:	n/a
33	chr5:104433849-104433899	H1-hESC	embryonic stem cell:	embryo
34	chr5:104434864-104434914	ProgFib	skin:	n/a
35	chr5:104433849-104433899	SAEC	small airway:	n/a
36	chr5:104433849-104433899	LNCaP	prostate:	n/a
37	chr5:104433849-104433899	HCF	heart:	n/a
38	chr5:104435062-104435112	HCT-116	colon:	n/a
39	chr5:104434864-104434914	PANC-1	pancreas:	n/a
40	chr5:104433849-104433899	GM12892	blood:	n/a
41	chr5:104434827-104434877	H1-hESC	embryonic stem cell:	embryo
42	chr5:104434827-104434877	GM06990	blood:	n/a
43	chr5:104433849-104433899	IMR90	lung:	fetal
44	chr5:104434864-104434914	IMR90	lung:	fetal
45	chr5:104433849-104433899	AG10803	skin:	n/a
46	chr5:104434864-104434914	AG09319	gingival:	n/a
47	chr5:104435062-104435112	ECC-1	luminal epithelium:	n/a
48	chr5:104434827-104434877	HAEpiC	amniotic membrane:	n/a
49	chr5:104433849-104433899	U87	brain:	n/a
50	chr5:104434827-104434877	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:
2	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:

No data

Variant related genes	Relation type
RAB9BP1	TF binding region
RAB9BP1	CpG island

Extended variants
information (count: 427 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560103429	chr5:104398847-104398848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553525926	chr5:104398878-104398879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573430643	chr5:104398887-104398888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545661088	chr5:104398888-104398889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565175963	chr5:104398893-104398894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188497376	chr5:104398899-104398900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142707449	chr5:104398900-104398901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561009293	chr5:104398920-104398921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114624752	chr5:104398925-104398926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73211631	chr5:104399029-104399030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76471278	chr5:104399048-104399049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192882770	chr5:104399050-104399051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528406797	chr5:104399063-104399064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551640468	chr5:104399065-104399066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74836865	chr5:104399108-104399109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144460525	chr5:104399145-104399146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557101628	chr5:104399156-104399157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567334463	chr5:104399162-104399163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148161896	chr5:104399194-104399195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553318001	chr5:104399237-104399238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573377023	chr5:104399268-104399269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536036967	chr5:104399335-104399336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7705466	chr5:104399356-104399357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374447012	chr5:104399394-104399395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575559792	chr5:104399395-104399396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74901155	chr5:104399399-104399400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114026862	chr5:104399404-104399405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530164920	chr5:104399440-104399441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112362399	chr5:104399494-104399495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533595092	chr5:104399496-104399497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559323507	chr5:104399497-104399498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78564137	chr5:104399502-104399503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551388238	chr5:104399508-104399509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571476342	chr5:104399592-104399593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530535468	chr5:104399600-104399601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368614449	chr5:104399749-104399750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77799122	chr5:104399750-104399751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79749337	chr5:104399751-104399752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142034540	chr5:104399752-104399753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199700375	chr5:104399753-104399754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375100943	chr5:104399888-104399889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537114416	chr5:104399935-104399936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201859661	chr5:104399942-104399943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539184178	chr5:104399946-104399947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185468349	chr5:104399963-104399964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575506842	chr5:104399969-104399970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558702667	chr5:104399986-104399987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554580499	chr5:104399991-104399992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189410391	chr5:104400023-104400024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574480447	chr5:104400079-104400080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104398800-104402000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:104421400-104421600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:104421600-104422200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:104422400-104422600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:104422600-104423600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:104423600-104425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:104424000-104424400	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:104425000-104428000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:104428000-104428200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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