Variant report

Variant	rs4866811
Chromosome Location	chr5:43237188-43237189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr5:43237037-43237237	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr5:43237068-43237214	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr5:43237183-43237323	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43235429..43237526-chr5:43312144..43314588,2	MCF-7	breast:
2	chr5:43068783..43070775-chr5:43235999..43238082,2	K562	blood:
3	chr5:43221964..43224775-chr5:43236729..43238737,2	K562	blood:
4	chr5:43229559..43232274-chr5:43236155..43239075,3	K562	blood:
5	chr5:43236682..43238886-chr5:43241349..43243253,2	K562	blood:
6	chr5:43235885..43238229-chr5:43348836..43351666,2	MCF-7	breast:
7	chr5:43232169..43234806-chr5:43235762..43237499,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247763	TF binding region
ENSG00000112972	Chromatin interaction
ENSG00000247763	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12108783	0.84[CEU][hapmap];0.88[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12655504	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1618891	0.80[ASW][hapmap];0.87[CEU][hapmap]
rs1624415	0.80[ASW][hapmap];0.88[CEU][hapmap]
rs1670796	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2330089	0.82[ASN][1000 genomes]
rs2444779	0.93[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36116359	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4428420	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs512921	0.83[CEU][hapmap]
rs567884	0.80[ASW][hapmap];0.83[CEU][hapmap]
rs57412930	0.83[ASN][1000 genomes]
rs59733223	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62368886	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6892422	0.93[ASW][hapmap];0.83[CEU][hapmap]
rs7734884	0.82[CHB][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs782971	0.88[CEU][hapmap]
rs782978	0.80[ASW][hapmap];0.83[CEU][hapmap]
rs782984	0.88[CEU][hapmap]
rs903391	0.88[CEU][hapmap]
rs9292867	0.88[CHB][hapmap];0.97[CHD][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4866811	TTLL7	trans	parietal	SCAN
rs4866811	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43209600-43245200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:43231000-43245600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:43232200-43245400	Weak transcription	Brain Anterior Caudate	brain
5	chr5:43232800-43246000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:43233000-43238600	Weak transcription	K562	blood
7	chr5:43233000-43245200	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:43233200-43245400	Weak transcription	Brain Substantia Nigra	brain
9	chr5:43234200-43245400	Weak transcription	Brain Angular Gyrus	brain
10	chr5:43234800-43243600	Weak transcription	GM12878-XiMat	blood
11	chr5:43236600-43237400	Enhancers	Adipose Nuclei	Adipose
12	chr5:43236800-43237200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links