Variant report

Variant	nsv980944
Chromosome Location	chr5:118933077-118953774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:118950582-118950884	H1-hESC	embryonic stem cell:	n/a	chr5:118950732-118950743
2	CEBPB	chr5:118950598-118950884	K562	blood:	n/a	chr5:118950732-118950743
3	CEBPB	chr5:118950581-118950898	Hela-S3	cervix:	n/a	chr5:118950732-118950743
4	CEBPB	chr5:118950660-118950968	A549	lung:	n/a	chr5:118950732-118950743 chr5:118950910-118950923
5	CEBPB	chr5:118950582-118950912	A549	lung:	n/a	chr5:118950732-118950743
6	CEBPB	chr5:118950580-118950925	IMR90	lung:	n/a	chr5:118950732-118950743 chr5:118950910-118950923
7	CEBPB	chr5:118950558-118950922	HepG2	liver:	n/a	chr5:118950732-118950743
8	FOXA2	chr5:118935375-118935653	A549	lung:	n/a	n/a
9	MYC	chr5:118935173-118935262	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:118943129-118943175	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr5:118947774-118947808	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:118945075-118945101	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr5:118943302-118943499	MCF10A-Er-Src	breast:	n/a	n/a
14	TAF7	chr5:118945184-118945547	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBP	chr5:118945334-118945412	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:118943582-118943632	HCM	heart:	n/a
2	chr5:118945798-118945848	PANC-1	pancreas:	n/a
3	chr5:118945798-118945848	HPAEpiC	pulmonary alveolar:	n/a
4	chr5:118945798-118945848	HEK293	kidney:	embryo
5	chr5:118943582-118943632	HCT-116	colon:	n/a
6	chr5:118943582-118943632	MCF10A-Er-Src	breast:	n/a
7	chr5:118943582-118943632	PFSK-1	brain:	n/a
8	chr5:118943582-118943632	HRCEpiC	kidney:	n/a
9	chr5:118943582-118943632	PANC-1	pancreas:	n/a
10	chr5:118945798-118945848	NHBE	bronchial:	n/a
11	chr5:118945798-118945848	HEEpiC	esophagus:	n/a
12	chr5:118943582-118943632	GM19239	blood:	n/a
13	chr5:118945798-118945848	SKMC	muscle:	n/a
14	chr5:118943582-118943632	H1-hESC	embryonic stem cell:	embryo
15	chr5:118945798-118945848	SK-N-SH	brain:	n/a
16	chr5:118945798-118945848	AG09309	skin:	n/a
17	chr5:118943582-118943632	HAEpiC	amniotic membrane:	n/a
18	chr5:118945798-118945848	Hepatocyte	liver:	n/a
19	chr5:118943582-118943632	NHDF-neo	bronchial:	n/a
20	chr5:118945798-118945848	GM12891	blood:	n/a
21	chr5:118943582-118943632	CMK	blood:	n/a
22	chr5:118943582-118943632	LNCaP	prostate:	n/a
23	chr5:118943582-118943632	AG09319	gingival:	n/a
24	chr5:118945798-118945848	HIPEpiC	eye:	n/a
25	chr5:118943582-118943632	Jurkat	blood:	n/a
26	chr5:118945798-118945848	NB4	blood:	n/a
27	chr5:118943582-118943632	SK-N-SH_RA	brain:	n/a
28	chr5:118945798-118945848	GM06990	blood:	n/a
29	chr5:118945798-118945848	NT2-D1	testis:	n/a
30	chr5:118943582-118943632	HCF	heart:	n/a
31	chr5:118943582-118943632	SK-N-SH	brain:	n/a
32	chr5:118945798-118945848	NHDF-neo	bronchial:	n/a
33	chr5:118943582-118943632	SK-N-MC	brain:	n/a
34	chr5:118945798-118945848	RPTEC	kidney:	n/a
35	chr5:118945798-118945848	HUVEC	blood vessel:	n/a
36	chr5:118945798-118945848	IMR90	lung:	fetal
37	chr5:118945798-118945848	BE2_C	brain:	n/a
38	chr5:118945798-118945848	SAEC	small airway:	n/a
39	chr5:118945798-118945848	SK-N-MC	brain:	n/a
40	chr5:118945798-118945848	Hela-S3	cervix:	n/a
41	chr5:118943582-118943632	HRE	kidney:	n/a
42	chr5:118945798-118945848	H1-hESC	embryonic stem cell:	embryo
43	chr5:118943582-118943632	Caco-2	colon:	n/a
44	chr5:118943582-118943632	HepG2	liver:	n/a
45	chr5:118945798-118945848	MCF10A-Er-Src	breast:	n/a
46	chr5:118945798-118945848	ProgFib	skin:	n/a
47	chr5:118943582-118943632	A549	lung:	n/a
48	chr5:118945798-118945848	HRE	kidney:	n/a
49	chr5:118945798-118945848	BJ	skin:	n/a
50	chr5:118943582-118943632	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118804092..118805803-chr5:118943072..118945052,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239067	TF binding region
ENSG00000239067	CpG island
ENSG00000239084	chromatin interactions

Extended variants
information (count: 279 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:279 , 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	rs527430938	chr5:118941810-118941811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189439652	chr5:118941811-118941812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193042842	chr5:118941814-118941815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557473959	chr5:118941823-118941824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577305858	chr5:118941836-118941837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540041722	chr5:118941871-118941872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116311550	chr5:118941876-118941877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111331067	chr5:118941884-118941885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189826767	chr5:118941893-118941894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369347741	chr5:118941940-118941941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181379187	chr5:118941944-118941945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186519634	chr5:118941947-118941948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372923063	chr5:118941958-118941959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564603853	chr5:118941974-118941975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371081489	chr5:118941980-118941981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147109434	chr5:118941981-118941982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188631536	chr5:118942001-118942002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529195909	chr5:118942024-118942025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549047338	chr5:118942035-118942036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10519600	chr5:118942037-118942038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138591841	chr5:118942047-118942048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143832449	chr5:118942055-118942056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180988247	chr5:118942061-118942062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533607073	chr5:118942138-118942139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185220320	chr5:118942149-118942150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191102503	chr5:118942158-118942159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183682601	chr5:118942201-118942202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527642810	chr5:118942202-118942203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186990881	chr5:118942213-118942214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536045787	chr5:118942228-118942229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74361807	chr5:118942246-118942247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539455239	chr5:118942332-118942333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112060750	chr5:118942345-118942346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147246821	chr5:118942363-118942364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578146262	chr5:118942379-118942380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550073336	chr5:118942380-118942381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560624539	chr5:118942423-118942424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529120916	chr5:118942451-118942452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542783082	chr5:118942457-118942458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562460357	chr5:118942465-118942466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73790902	chr5:118942495-118942496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79172527	chr5:118942541-118942542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570871853	chr5:118942554-118942555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527271553	chr5:118942568-118942569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148733374	chr5:118942572-118942573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10059784	chr5:118942612-118942613	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10519601	chr5:118942621-118942622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555963106	chr5:118942659-118942660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532750947	chr5:118942667-118942668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10051870	chr5:118942685-118942686	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118941800-118942000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:118942000-118945600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:118942400-118947000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:118943000-118943200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:118943200-118943600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:118943600-118943800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:118943600-118946600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:118944000-118945000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:118944600-118946200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:118944800-118945200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:118945000-118946400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:118945200-118946200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:118945400-118946400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:118945600-118946200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:118945600-118946400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:118945800-118946400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:118946000-118946400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:118946200-118947000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:118946400-118946800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:118946800-118947200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:118947000-118947200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links