Variant report

Variant	rs6443675
Chromosome Location	chr3:179590897-179590898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:179590760-179590910	Caco-2	colon:	n/a	n/a
2	CTCF	chr3:179590739-179590980	K562	blood:	n/a	n/a
3	CTCF	chr3:179590756-179590933	K562	blood:	n/a	n/a
4	CTCF	chr3:179590761-179590899	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr3:179590800-179590950	BE2_C	brain:	n/a	n/a
6	USF1	chr3:179590652-179590945	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr3:179590800-179590950	SK-N-SH_RA	brain:	n/a	n/a
8	RAD21	chr3:179590617-179591038	H1-hESC	embryonic stem cell:	n/a	chr3:179590841-179590855
9	CTCF	chr3:179590760-179590910	GM12874	blood:	n/a	n/a
10	RAD21	chr3:179590676-179591046	H1-hESC	embryonic stem cell:	n/a	chr3:179590841-179590855
11	CTCF	chr3:179590737-179590920	HepG2	liver:	n/a	n/a
12	USF1	chr3:179590725-179590925	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr3:179590760-179590910	K562	blood:	n/a	n/a
14	CTCF	chr3:179590780-179590930	A549	lung:	n/a	n/a
15	RAD21	chr3:179590659-179591027	H1-hESC	embryonic stem cell:	n/a	chr3:179590841-179590855
16	CTCF	chr3:179590760-179590910	HAc	cerebellar:	n/a	n/a
17	CTCF	chr3:179590784-179590904	A549	lung:	n/a	n/a
18	CTCF	chr3:179590764-179590925	HepG2	liver:	n/a	n/a
19	CTCF	chr3:179590820-179590970	GM12864	blood:	n/a	n/a
20	CTCF	chr3:179590760-179590910	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr3:179590780-179590930	GM12864	blood:	n/a	n/a
22	CTCF	chr3:179590672-179590927	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr3:179590800-179590950	HepG2	liver:	n/a	n/a
24	CTCF	chr3:179590780-179590930	NB4	blood:	n/a	n/a
25	CTCF	chr3:179590780-179590930	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr3:179590840-179590990	GM06990	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:179590394..179592324-chr3:179594895..179596765,2	K562	blood:

No data

Variant related genes	Relation type
PEX5L-AS1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12696482	0.87[ASN][1000 genomes]
rs1567622	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1567624	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1609981	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819122	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1973797	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1985273	0.94[AMR][1000 genomes]
rs2037633	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2177591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287224	0.90[ASN][1000 genomes]
rs2879636	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774253	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821798	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4146790	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4854954	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6784136	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7616210	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634271	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7650575	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9836550	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9862706	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][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	nsv829807	chr3:179527567-179745153	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv829808	chr3:179574614-179754321	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179533800-179605000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:179537800-179599400	Weak transcription	Brain Anterior Caudate	brain
3	chr3:179564200-179606000	Strong transcription	Dnd41	blood
4	chr3:179571400-179596800	Weak transcription	Brain Angular Gyrus	brain
5	chr3:179575200-179591200	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:179580200-179598600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:179586800-179591200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:179589600-179591200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:179590400-179591600	Strong transcription	Brain Substantia Nigra	brain
10	chr3:179590600-179598800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:179590800-179591000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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