Variant report

Variant	nsv10732
Chromosome Location	chr5:99709610-99735629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:99720609-99720839	GM12878	blood:	n/a	n/a
2	CBX3	chr5:99722826-99723197	K562	blood:	n/a	n/a
3	CEBPB	chr5:99722893-99723094	K562	blood:	n/a	n/a
4	CEBPB	chr5:99734563-99734858	K562	blood:	n/a	chr5:99734716-99734725 chr5:99734716-99734725 chr5:99734716-99734725 chr5:99734716-99734727 chr5:99734714-99734727 chr5:99734714-99734727 chr5:99734716-99734725
5	CEBPB	chr5:99725269-99725511	IMR90	lung:	n/a	chr5:99725330-99725341
6	CEBPB	chr5:99725292-99725487	H1-hESC	embryonic stem cell:	n/a	chr5:99725330-99725341
7	CEBPB	chr5:99725233-99725508	A549	lung:	n/a	chr5:99725330-99725341
8	CEBPB	chr5:99722822-99723228	K562	blood:	n/a	n/a
9	CEBPB	chr5:99725150-99725518	HepG2	liver:	n/a	chr5:99725330-99725341
10	CTCF	chr5:99733797-99733864	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr5:99722793-99723240	K562	blood:	n/a	n/a
12	CTCF	chr5:99720330-99720463	HUVEC	blood vessel:	n/a	chr5:99720428-99720436
13	CTCF	chr5:99712138-99712214	LNCaP	prostate:	n/a	n/a
14	CTCF	chr5:99733513-99733538	MCF-7	breast:	n/a	n/a
15	CTCF	chr5:99719965-99720044	GM13976	blood:	n/a	n/a
16	CTCF	chr5:99733487-99733594	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:99734932-99734978	ProgFib	skin:	n/a	n/a
18	CTCF	chr5:99715382-99715403	GM13976	blood:	n/a	n/a
19	CTCF	chr5:99715013-99715107	LNCaP	prostate:	n/a	n/a
20	CTCF	chr5:99716865-99717346	K562	blood:	n/a	n/a
21	CTCF	chr5:99716964-99717185	K562	blood:	n/a	n/a
22	CTCF	chr5:99728382-99728417	GM13976	blood:	n/a	n/a
23	CTCF	chr5:99715583-99715627	GM13976	blood:	n/a	n/a
24	CTCF	chr5:99722871-99723159	K562	blood:	n/a	n/a
25	CTCF	chr5:99722880-99723100	K562	blood:	n/a	n/a
26	CTCF	chr5:99720413-99720429	GM12878	blood:	n/a	n/a
27	EP300	chr5:99711985-99712138	GM12878	blood:	n/a	n/a
28	FOXA1	chr5:99718558-99719001	HepG2	liver:	n/a	n/a
29	GABPA	chr5:99727841-99727939	Hela-S3	cervix:	n/a	n/a
30	GABPA	chr5:99727022-99727120	Hela-S3	cervix:	n/a	n/a
31	GABPA	chr5:99727663-99727966	Hela-S3	cervix:	n/a	n/a
32	GATA2	chr5:99730840-99731086	K562	blood:	n/a	n/a
33	JUND	chr5:99727788-99727959	HepG2	liver:	n/a	n/a
34	JUND	chr5:99726969-99727140	HepG2	liver:	n/a	n/a
35	MAFK	chr5:99732365-99732541	HepG2	liver:	n/a	chr5:99732486-99732497 chr5:99732485-99732501 chr5:99732486-99732497 chr5:99732484-99732498 chr5:99732485-99732496 chr5:99732485-99732496
36	MYC	chr5:99711970-99712109	GM12878	blood:	n/a	n/a
37	NR2F2	chr5:99722844-99723171	K562	blood:	n/a	n/a
38	PAX5	chr5:99723732-99724216	GM12878	blood:	n/a	n/a
39	PAX5	chr5:99730810-99731201	GM12878	blood:	n/a	n/a
40	PAX5	chr5:99715929-99716234	GM12878	blood:	n/a	n/a
41	PAX5	chr5:99725003-99725174	GM12878	blood:	n/a	n/a
42	PAX5	chr5:99711834-99712283	GM12878	blood:	n/a	n/a
43	PBX3	chr5:99729597-99729733	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:99726914-99727188	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:99726121-99726293	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr5:99727733-99728007	GM12878	blood:	n/a	n/a
47	POLR2A	chr5:99726940-99727158	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr5:99727759-99727977	Hela-S3	cervix:	n/a	n/a
49	POU2F2	chr5:99730885-99731067	GM12878	blood:	n/a	n/a
50	POU2F2	chr5:99718683-99719017	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	chr5:99715943-99715993	ECC-1	luminal epithelium:	n/a
2	chr5:99725058-99725108	AG10803	skin:	n/a
3	chr5:99723951-99724001	ovcar-3	ovarian:	n/a
4	chr5:99725376-99725426	Jurkat	blood:	n/a
5	chr5:99726346-99726396	NT2-D1	testis:	n/a
6	chr5:99723951-99724001	H1-hESC	embryonic stem cell:	embryo
7	chr5:99726346-99726396	AG09309	skin:	n/a
8	chr5:99723951-99724001	SAEC	small airway:	n/a
9	chr5:99723987-99724037	SK-N-SH_RA	brain:	n/a
10	chr5:99725376-99725426	HUVEC	blood vessel:	n/a
11	chr5:99725376-99725426	RPTEC	kidney:	n/a
12	chr5:99725277-99725327	MCF-7	breast:	n/a
13	chr5:99723951-99724001	Jurkat	blood:	n/a
14	chr5:99715943-99715993	GM19239	blood:	n/a
15	chr5:99725277-99725327	HCPEpiC	choroid plexus:	n/a
16	chr5:99723951-99724001	NB4	blood:	n/a
17	chr5:99726346-99726396	HCPEpiC	choroid plexus:	n/a
18	chr5:99725277-99725327	ECC-1	luminal epithelium:	n/a
19	chr5:99723987-99724037	AG09309	skin:	n/a
20	chr5:99723951-99724001	HIPEpiC	eye:	n/a
21	chr5:99715943-99715993	SK-N-SH_RA	brain:	n/a
22	chr5:99725277-99725327	HUVEC	blood vessel:	n/a
23	chr5:99723987-99724037	GM19239	blood:	n/a
24	chr5:99726346-99726396	U87	brain:	n/a
25	chr5:99726346-99726396	HCM	heart:	n/a
26	chr5:99723951-99724001	U87	brain:	n/a
27	chr5:99723951-99724001	AG09319	gingival:	n/a
28	chr5:99726346-99726396	T-47D	breast:	n/a
29	chr5:99726346-99726396	HL-60	blood:	n/a
30	chr5:99725376-99725426	SKMC	muscle:	n/a
31	chr5:99726346-99726396	SAEC	small airway:	n/a
32	chr5:99726346-99726396	HAEpiC	amniotic membrane:	n/a
33	chr5:99725277-99725327	HCF	heart:	n/a
34	chr5:99725376-99725426	MCF-7	breast:	n/a
35	chr5:99725058-99725108	RPTEC	kidney:	n/a
36	chr5:99725058-99725108	HRE	kidney:	n/a
37	chr5:99725058-99725108	HCPEpiC	choroid plexus:	n/a
38	chr5:99725376-99725426	GM06990	blood:	n/a
39	chr5:99723987-99724037	Hela-S3	cervix:	n/a
40	chr5:99726346-99726396	HEEpiC	esophagus:	n/a
41	chr5:99725376-99725426	HRE	kidney:	n/a
42	chr5:99725376-99725426	AG10803	skin:	n/a
43	chr5:99725376-99725426	NHDF-neo	bronchial:	n/a
44	chr5:99726346-99726396	NHBE	bronchial:	n/a
45	chr5:99715943-99715993	K562	blood:	n/a
46	chr5:99725277-99725327	HIPEpiC	eye:	n/a
47	chr5:99725058-99725108	SK-N-MC	brain:	n/a
48	chr5:99723951-99724001	GM06990	blood:	n/a
49	chr5:99725376-99725426	A549	lung:	n/a
50	chr5:99725376-99725426	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
ENSG00000249787	TF binding region
ENSG00000249787	CpG island

Extended variants
information (count: 57 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544575352	chr5:99732461-99732462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556601601	chr5:99732509-99732510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574934690	chr5:99732522-99732523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs189240084	chr5:99732846-99732847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs543888417	chr5:99732862-99732863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368169408	chr5:99732879-99732880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561335683	chr5:99732906-99732907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs528914282	chr5:99732972-99732973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200838077	chr5:99733040-99733041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201860906	chr5:99733085-99733086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs559343327	chr5:99733862-99733863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532830021	chr5:99734402-99734403	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2927011	chr5:99734444-99734445	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563603653	chr5:99734458-99734459	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181346014	chr5:99734476-99734477	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370570210	chr5:99734539-99734540	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs568424540	chr5:99734599-99734600	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs529394773	chr5:99734608-99734609	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs183603891	chr5:99734609-99734610	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs547614508	chr5:99734614-99734615	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs372290121	chr5:99734651-99734652	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs566047987	chr5:99734666-99734667	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539472994	chr5:99734701-99734702	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557999177	chr5:99734718-99734719	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs570028785	chr5:99734740-99734741	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs367703390	chr5:99734756-99734757	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs537208436	chr5:99734778-99734779	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551426529	chr5:99734819-99734820	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs555929657	chr5:99734820-99734821	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs574197956	chr5:99734827-99734828	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs541113002	chr5:99734840-99734841	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs552829146	chr5:99734857-99734858	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs374815708	chr5:99734875-99734876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577690956	chr5:99734879-99734880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188316795	chr5:99734934-99734935	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs563542636	chr5:99734950-99734951	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs530838132	chr5:99734991-99734992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56060625	chr5:99735045-99735046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560100435	chr5:99735078-99735079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542413132	chr5:99735091-99735092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369103621	chr5:99735104-99735105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561135703	chr5:99735173-99735174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56031114	chr5:99735174-99735175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs13167564	chr5:99735178-99735179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs202177611	chr5:99735186-99735187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71586523	chr5:99735203-99735204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149781377	chr5:99735220-99735221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550279255	chr5:99735225-99735226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551369171	chr5:99735259-99735260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181072538	chr5:99735263-99735264	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99734400-99734800	Active TSS	Monocytes-CD14+_RO01746	blood
2	chr5:99734400-99735400	Enhancers	Primary monocytes fromperipheralblood	blood

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