Variant report

Variant	rs10010243
Chromosome Location	chr4:80131361-80131362
allele	C/T
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	TAL1	chr4:80131239-80131818	K562	blood:	n/a	n/a
2	JUN	chr4:80130811-80135599	K562	blood:	n/a	chr4:80133097-80133109 chr4:80132960-80132969 chr4:80134699-80134708 chr4:80134698-80134707 chr4:80135002-80135011 chr4:80134699-80134706 chr4:80132279-80132287 chr4:80133099-80133107 chr4:80135001-80135014 chr4:80134699-80134707 chr4:80133040-80133048
3	MAX	chr4:80131130-80131977	NB4	blood:	n/a	n/a
4	GATA3	chr4:80131187-80131771	MCF-7	breast:	n/a	n/a
5	RCOR1	chr4:80131153-80131747	K562	blood:	n/a	n/a
6	MYC	chr4:80131127-80132042	K562	blood:	n/a	n/a
7	MAX	chr4:80130948-80131699	K562	blood:	n/a	n/a
8	IRF1	chr4:80131168-80134960	K562	blood:	n/a	chr4:80134699-80134708 chr4:80134859-80134873 chr4:80134698-80134707
9	MYC	chr4:80131101-80131986	K562	blood:	n/a	n/a
10	POLR2A	chr4:80131116-80133173	K562	blood:	n/a	n/a
11	ZMIZ1	chr4:80131147-80132096	K562	blood:	n/a	n/a
12	TBP	chr4:80131134-80132259	K562	blood:	n/a	n/a
13	MAZ	chr4:80131159-80131740	K562	blood:	n/a	n/a
14	POLR2A	chr4:80131141-80131757	K562	blood:	n/a	n/a
15	FOXA2	chr4:80131349-80131557	HepG2	liver:	n/a	n/a
16	POLR2A	chr4:80130962-80133213	K562	blood:	n/a	n/a
17	EP300	chr4:80131269-80131659	K562	blood:	n/a	n/a
18	CEBPB	chr4:80131337-80131684	Hela-S3	cervix:	n/a	n/a
19	FOXA1	chr4:80131217-80131733	HepG2	liver:	n/a	n/a
20	USF1	chr4:80131211-80131724	K562	blood:	n/a	n/a
21	POLR2A	chr4:80131179-80131724	K562	blood:	n/a	n/a
22	HCFC1	chr4:80131213-80131685	K562	blood:	n/a	n/a
23	TBL1XR1	chr4:80130962-80133750	K562	blood:	n/a	n/a
24	ELF1	chr4:80131252-80131681	K562	blood:	n/a	n/a
25	USF2	chr4:80131329-80131561	Hela-S3	cervix:	n/a	n/a
26	TBL1XR1	chr4:80131345-80131708	K562	blood:	n/a	n/a
27	E2F6	chr4:80131214-80131580	K562	blood:	n/a	n/a
28	MYBL2	chr4:80131312-80131772	HepG2	liver:	n/a	n/a
29	ZC3H11A	chr4:80131226-80131855	K562	blood:	n/a	n/a
30	EP300	chr4:80131253-80131690	HepG2	liver:	n/a	n/a
31	MAX	chr4:80131308-80131588	Hela-S3	cervix:	n/a	n/a
32	GTF2F1	chr4:80131291-80131571	K562	blood:	n/a	n/a
33	TAF1	chr4:80131298-80131694	K562	blood:	n/a	n/a
34	MXI1	chr4:80131348-80131548	K562	blood:	n/a	n/a
35	ARID3A	chr4:80131117-80132132	K562	blood:	n/a	n/a
36	MYC	chr4:80131335-80131613	K562	blood:	n/a	n/a
37	GATA2	chr4:80131166-80131738	HUVEC	blood vessel:	n/a	n/a
38	PML	chr4:80131114-80131979	K562	blood:	n/a	n/a
39	TRIM28	chr4:80131187-80131755	K562	blood:	n/a	n/a
40	NR2F2	chr4:80131333-80131730	MCF-7	breast:	n/a	n/a
41	USF1	chr4:80131348-80131605	HepG2	liver:	n/a	n/a
42	RCOR1	chr4:80131036-80132117	K562	blood:	n/a	n/a
43	POLR2A	chr4:80130901-80133836	K562	blood:	n/a	n/a
44	ZNF384	chr4:80131057-80131746	K562	blood:	n/a	n/a
45	HEY1	chr4:80131152-80131732	HepG2	liver:	n/a	n/a
46	MAFF	chr4:80131351-80131642	K562	blood:	n/a	n/a
47	ZNF143	chr4:80131270-80131646	K562	blood:	n/a	n/a
48	TCF12	chr4:80131330-80131678	HepG2	liver:	n/a	n/a
49	MAX	chr4:80131190-80131615	K562	blood:	n/a	n/a
50	SP1	chr4:80131216-80131809	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:80122838..80125677-chr4:80129112..80131710,3	K562	blood:
2	chr4:80130888..80132552-chr4:80164222..80166860,2	K562	blood:
3	chr4:80130065..80132388-chr4:80165360..80168173,2	K562	blood:
4	chr4:80127482..80129518-chr4:80129789..80131371,2	K562	blood:

Variant related genes	Relation type
LINC01088	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28628859	0.96[AFR][1000 genomes]
rs28688839	0.88[AFR][1000 genomes]
rs6822677	0.80[AFR][1000 genomes]
rs72662701	0.84[AFR][1000 genomes]
rs73828226	0.90[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1014428	chr4:80089712-80132813	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80129400-80135000	Weak transcription	Aorta	Aorta
2	chr4:80129600-80133000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:80130200-80131800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr4:80130200-80132200	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:80130400-80132800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:80130400-80133000	Enhancers	Hela-S3	cervix
7	chr4:80130600-80131600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:80130600-80138000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:80130800-80131800	Enhancers	Dnd41	blood
10	chr4:80130800-80133000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr4:80130800-80133200	Enhancers	Fetal Brain Male	brain
12	chr4:80131000-80131400	Enhancers	Placenta	Placenta
13	chr4:80131000-80131400	Enhancers	Spleen	Spleen
14	chr4:80131000-80131400	Flanking Active TSS	K562	blood
15	chr4:80131000-80131600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:80131000-80131600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:80131000-80131800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:80131000-80131800	Enhancers	Fetal Intestine Small	intestine
19	chr4:80131000-80132000	Enhancers	Fetal Intestine Large	intestine
20	chr4:80131000-80133400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:80131200-80131600	Enhancers	Lung	lung
22	chr4:80131200-80131600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr4:80131200-80131600	Active TSS	HepG2	liver
24	chr4:80131200-80132200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links