Variant report

Variant	nsv519527
Chromosome Location	chr5:104404642-104438758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr5:104437422-104437706	ECC-1	luminal epithelium:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
3	CEBPB	chr5:104437313-104437709	MCF-7	breast:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
4	CEBPB	chr5:104423406-104423707	A549	lung:	n/a	chr5:104423566-104423577
5	CEBPB	chr5:104423402-104423724	HepG2	liver:	n/a	chr5:104423566-104423577
6	CEBPB	chr5:104432081-104432193	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:104437342-104437690	HepG2	liver:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
8	CEBPB	chr5:104437345-104437662	A549	lung:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
9	CEBPB	chr5:104437386-104437647	IMR90	lung:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
10	CEBPB	chr5:104423448-104423672	K562	blood:	n/a	chr5:104423566-104423577
11	CEBPB	chr5:104437246-104437795	MCF-7	breast:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
12	CEBPB	chr5:104437346-104437647	K562	blood:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
13	CEBPB	chr5:104437342-104437688	Hela-S3	cervix:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
14	CEBPB	chr5:104423410-104423746	IMR90	lung:	n/a	chr5:104423566-104423577
15	CEBPB	chr5:104437340-104437708	ECC-1	luminal epithelium:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
16	CTCF	chr5:104434155-104434241	GM10248	blood:	n/a	n/a
17	EP300	chr5:104423997-104424069	K562	blood:	n/a	n/a
18	FAM48A	chr5:104424879-104425034	GM12878	blood:	n/a	n/a
19	FOS	chr5:104431025-104431134	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:104436642-104436861	MCF10A-Er-Src	breast:	n/a	n/a
21	GATA3	chr5:104404784-104404926	SH-SY5Y	brain:	n/a	n/a
22	JUND	chr5:104430917-104431144	HepG2	liver:	n/a	chr5:104431059-104431070
23	KAP1	chr5:104428118-104428909	K562	blood:	n/a	n/a
24	KAP1	chr5:104429053-104429459	HEK293	kidney:	n/a	n/a
25	MAX	chr5:104409793-104410041	NB4	blood:	n/a	chr5:104409875-104409885 chr5:104409899-104409909
26	NRF1	chr5:104409970-104409999	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:104417823-104417884	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr5:104425552-104425649	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr5:104416922-104416943	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:104408006-104408284	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr5:104434137-104434247	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr5:104407972-104408150	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr5:104423537-104423595	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr5:104429392-104429480	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr5:104438756-104438956	MCF10A-Er-Src	breast:	n/a	n/a
36	RFX5	chr5:104423869-104423944	HepG2	liver:	n/a	n/a
37	SETDB1	chr5:104428936-104429626	U2OS	brain:	n/a	n/a
38	STAT3	chr5:104424212-104424412	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr5:104421925-104422093	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr5:104437400-104437547	MCF10A-Er-Src	breast:	n/a	chr5:104437523-104437531
41	STAT3	chr5:104423319-104423358	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr5:104437526-104437682	MCF10A-Er-Src	breast:	n/a	n/a
43	TAL1	chr5:104413511-104413720	K562	blood:	n/a	chr5:104413576-104413594
44	ZNF143	chr5:104428384-104428530	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104434864-104434914	HepG2	liver:	n/a
2	chr5:104433849-104433899	Caco-2	colon:	n/a
3	chr5:104434827-104434877	HRCEpiC	kidney:	n/a
4	chr5:104435608-104435658	PFSK-1	brain:	n/a
5	chr5:104434827-104434877	HCM	heart:	n/a
6	chr5:104434864-104434914	GM06990	blood:	n/a
7	chr5:104434864-104434914	GM12878	blood:	n/a
8	chr5:104435608-104435658	AG04450	lung:	fetal
9	chr5:104434827-104434877	HEK293	kidney:	embryo
10	chr5:104434864-104434914	H1-hESC	embryonic stem cell:	embryo
11	chr5:104435608-104435658	HAEpiC	amniotic membrane:	n/a
12	chr5:104434864-104434914	A549	lung:	n/a
13	chr5:104435062-104435112	AG10803	skin:	n/a
14	chr5:104435608-104435658	T-47D	breast:	n/a
15	chr5:104434864-104434914	HEEpiC	esophagus:	n/a
16	chr5:104435062-104435112	NT2-D1	testis:	n/a
17	chr5:104434827-104434877	MCF-7	breast:	n/a
18	chr5:104435608-104435658	Hepatocyte	liver:	n/a
19	chr5:104434864-104434914	AG10803	skin:	n/a
20	chr5:104435062-104435112	HCPEpiC	choroid plexus:	n/a
21	chr5:104435608-104435658	CMK	blood:	n/a
22	chr5:104433849-104433899	HNPCEpiC	eye:	n/a
23	chr5:104435608-104435658	HUVEC	blood vessel:	n/a
24	chr5:104433849-104433899	HRPEpiC	eye:	n/a
25	chr5:104434864-104434914	HCF	heart:	n/a
26	chr5:104435062-104435112	HRPEpiC	eye:	n/a
27	chr5:104433849-104433899	SKMC	muscle:	n/a
28	chr5:104434864-104434914	IMR90	lung:	fetal
29	chr5:104435608-104435658	Caco-2	colon:	n/a
30	chr5:104433849-104433899	LNCaP	prostate:	n/a
31	chr5:104433849-104433899	SK-N-SH	brain:	n/a
32	chr5:104434864-104434914	RPTEC	kidney:	n/a
33	chr5:104435062-104435112	AoSMC	blood vessel:	n/a
34	chr5:104433849-104433899	MCF-7	breast:	n/a
35	chr5:104435062-104435112	AG04450	lung:	fetal
36	chr5:104433849-104433899	U87	brain:	n/a
37	chr5:104433849-104433899	SK-N-MC	brain:	n/a
38	chr5:104433849-104433899	ProgFib	skin:	n/a
39	chr5:104433849-104433899	HRCEpiC	kidney:	n/a
40	chr5:104435608-104435658	AoSMC	blood vessel:	n/a
41	chr5:104433849-104433899	K562	blood:	n/a
42	chr5:104435062-104435112	GM12891	blood:	n/a
43	chr5:104435062-104435112	SK-N-MC	brain:	n/a
44	chr5:104435062-104435112	HUVEC	blood vessel:	n/a
45	chr5:104435608-104435658	HEK293	kidney:	embryo
46	chr5:104433849-104433899	HepG2	liver:	n/a
47	chr5:104433849-104433899	NB4	blood:	n/a
48	chr5:104434864-104434914	SK-N-SH	brain:	n/a
49	chr5:104434827-104434877	A549	lung:	n/a
50	chr5:104434827-104434877	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:
2	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:
3	chr5:104438251..104441149-chr5:104441695..104444269,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf30-8	chr5:104435175-104435799	NR_000039
2	lnc-C5orf30-8	chr5:104435174-104435799	NONHSAT103096

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

Extended variants
information (count: 362 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548099768	chr5:104421403-104421404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561675927	chr5:104421409-104421410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527575819	chr5:104421454-104421455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547412097	chr5:104421480-104421481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78368424	chr5:104421511-104421512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533051360	chr5:104421536-104421537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549863484	chr5:104421537-104421538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142462187	chr5:104421553-104421554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527338866	chr5:104421581-104421582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73211650	chr5:104421583-104421584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183888998	chr5:104421611-104421612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73211652	chr5:104421621-104421622	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549015157	chr5:104421646-104421647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145816131	chr5:104421650-104421651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs207466296	chr5:104421651-104421652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567242936	chr5:104421760-104421761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs535001309	chr5:104421761-104421762	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558133224	chr5:104421825-104421826	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577917404	chr5:104421847-104421848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs543911779	chr5:104421848-104421849	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189222692	chr5:104421888-104421889	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146354206	chr5:104421901-104421902	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs73211655	chr5:104421909-104421910	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148308932	chr5:104422010-104422011	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs74726573	chr5:104422045-104422046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs564119949	chr5:104422109-104422110	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs141765637	chr5:104422140-104422141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62366438	chr5:104422405-104422406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573836767	chr5:104422406-104422407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73211656	chr5:104422428-104422429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs372574070	chr5:104422431-104422432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183728293	chr5:104422448-104422449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555147125	chr5:104422462-104422463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571391241	chr5:104422466-104422467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541335068	chr5:104422475-104422476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564199726	chr5:104422476-104422477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533235746	chr5:104422502-104422503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146251632	chr5:104422520-104422521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10077770	chr5:104422538-104422539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs563266743	chr5:104422557-104422558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186954076	chr5:104422587-104422588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549056310	chr5:104422588-104422589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191754489	chr5:104422608-104422609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184244361	chr5:104422625-104422626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551928712	chr5:104422645-104422646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190011399	chr5:104422664-104422665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537339933	chr5:104422683-104422684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550608125	chr5:104422693-104422694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567277282	chr5:104422701-104422702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536358739	chr5:104422705-104422706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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	chr5:104421400-104421600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:104421600-104422200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:104422400-104422600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:104422600-104423600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:104423600-104425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:104424000-104424400	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:104425000-104428000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:104428000-104428200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:104437400-104438000	Enhancers	Cortex derived primary cultured neurospheres	brain

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