Variant report

Variant	rs72943959
Chromosome Location	chr1:84855079-84855080
allele	A/G
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	CTCF	chr1:84854980-84855130	K562	blood:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
2	CTCF	chr1:84854992-84855183	HepG2	liver:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
3	RUNX3	chr1:84854448-84855380	GM12878	blood:	n/a	n/a
4	CTCF	chr1:84855010-84855125	HepG2	liver:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
5	CTCF	chr1:84855025-84855121	GM13977	blood:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
6	CTCF	chr1:84854980-84855130	AG09309	skin:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
7	EP300	chr1:84854518-84855181	GM12878	blood:	n/a	chr1:84854703-84854712 chr1:84854704-84854713
8	CTCF	chr1:84855029-84855129	GM12878	blood:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
9	WRNIP1	chr1:84854861-84855180	GM12878	blood:	n/a	n/a
10	CTCF	chr1:84855034-84855100	GM10266	blood:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
11	CTCF	chr1:84854996-84855150	K562	blood:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
12	CTCF	chr1:84854960-84855110	GM12868	blood:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
13	CTCF	chr1:84854940-84855090	HepG2	liver:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
14	CTCF	chr1:84855000-84855150	GM06990	blood:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
15	CTCF	chr1:84855014-84855121	Gliobla	brain:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
16	CTCF	chr1:84854917-84855240	K562	blood:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
17	CTCF	chr1:84855000-84855150	HepG2	liver:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
18	CTCF	chr1:84855020-84855170	HCPEpiC	choroid plexus:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
19	CTCF	chr1:84854889-84855201	HepG2	liver:	n/a	chr1:84855067-84855085 chr1:84855070-84855083
20	RCOR1	chr1:84854471-84855086	GM12878	blood:	n/a	n/a
21	SMC3	chr1:84854980-84855196	HepG2	liver:	n/a	n/a
22	RAD21	chr1:84854936-84855199	HepG2	liver:	n/a	n/a
23	SPI1	chr1:84854183-84855190	GM12878	blood:	n/a	chr1:84854901-84854914
24	ATF1	chr1:84854980-84855107	K562	blood:	n/a	n/a

Variant related genes	Relation type
UOX	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11809752	1.00[AMR][1000 genomes]
rs57249159	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57450857	1.00[AMR][1000 genomes]
rs59742045	1.00[AMR][1000 genomes]
rs72942047	1.00[AMR][1000 genomes]
rs72942059	1.00[AMR][1000 genomes]
rs72942078	1.00[AMR][1000 genomes]
rs72942082	1.00[AMR][1000 genomes]
rs72942100	1.00[AMR][1000 genomes]
rs72943903	1.00[AMR][1000 genomes]
rs72943915	1.00[AMR][1000 genomes]
rs72946340	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946347	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946374	1.00[AMR][1000 genomes]
rs72948407	1.00[AMR][1000 genomes]
rs72948417	1.00[AMR][1000 genomes]
rs72948425	1.00[AMR][1000 genomes]
rs72948447	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84845600-84857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:84846400-84856000	Weak transcription	NHLF	lung
3	chr1:84852000-84857200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:84853200-84855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:84853400-84855800	Weak transcription	HMEC	breast
6	chr1:84853600-84855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:84853600-84855800	Weak transcription	NHEK	skin
8	chr1:84853600-84857800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:84853600-84858800	Weak transcription	HUVEC	blood vessel
10	chr1:84853800-84855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:84854200-84856200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:84854800-84855200	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:84855000-84855600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:84855000-84856400	Enhancers	Monocytes-CD14+_RO01746	blood

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