Variant report

Variant	rs8010013
Chromosome Location	chr14:55884828-55884829
allele	A/C
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	GATA2	chr14:55884794-55885029	SH-SY5Y	brain:	n/a	chr14:55884850-55884859
2	GATA2	chr14:55884814-55885625	HUVEC	blood vessel:	n/a	chr14:55885021-55885037 chr14:55884850-55884859 chr14:55885058-55885065
3	GATA1	chr14:55884631-55885415	PBDE	blood:	n/a	chr14:55885021-55885037 chr14:55884850-55884859 chr14:55885058-55885065

No.	Distal block	Cell Line	Cell type
1	chr14:55737969..55739630-chr14:55884088..55886762,2	K562	blood:
2	chr14:55877783..55881962-chr14:55882620..55887567,10	MCF-7	breast:
3	chr14:55877415..55882128-chr14:55883755..55887346,6	K562	blood:

Variant related genes	Relation type
RPL21P6	TF binding region
ENSG00000258413	Chromatin interaction
ENSG00000239199	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000126775	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10134905	0.86[EUR][1000 genomes]
rs10137395	0.84[EUR][1000 genomes]
rs10144034	0.86[EUR][1000 genomes]
rs10144130	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10150596	0.86[EUR][1000 genomes]
rs10150617	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10782426	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11627790	0.83[EUR][1000 genomes]
rs11845228	0.87[EUR][1000 genomes]
rs12431542	0.85[EUR][1000 genomes]
rs12887653	0.88[EUR][1000 genomes]
rs12888181	0.90[EUR][1000 genomes]
rs12888234	0.85[EUR][1000 genomes]
rs12888361	0.90[EUR][1000 genomes]
rs12893964	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1538257	0.87[YRI][hapmap]
rs1572613	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2152975	0.87[EUR][1000 genomes]
rs2152976	0.89[EUR][1000 genomes]
rs2185036	0.88[EUR][1000 genomes]
rs28478984	0.85[EUR][1000 genomes]
rs34652660	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4243600	0.88[EUR][1000 genomes]
rs4898865	0.86[EUR][1000 genomes]
rs4901562	0.86[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4901563	0.88[EUR][1000 genomes]
rs4901564	0.86[EUR][1000 genomes]
rs4901565	0.85[EUR][1000 genomes]
rs4901567	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4901568	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4901570	0.86[EUR][1000 genomes]
rs56015424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61976569	0.81[EUR][1000 genomes]
rs61976570	0.87[EUR][1000 genomes]
rs61976571	0.89[EUR][1000 genomes]
rs6573028	0.85[EUR][1000 genomes]
rs6573029	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573031	0.86[EUR][1000 genomes]
rs6573032	0.86[EUR][1000 genomes]
rs713477	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7142204	1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs7146170	0.86[EUR][1000 genomes]
rs7146269	0.86[EUR][1000 genomes]
rs7146306	0.86[EUR][1000 genomes]
rs7146472	0.87[EUR][1000 genomes]
rs7147415	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7147968	0.89[EUR][1000 genomes]
rs7148481	0.89[EUR][1000 genomes]
rs7149622	0.89[EUR][1000 genomes]
rs72717779	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8009706	0.86[EUR][1000 genomes]
rs8014526	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8014621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8020152	0.88[EUR][1000 genomes]
rs9635231	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8010013	FBXO34	cis	cerebellum	SCAN
rs8010013	EXOC5	cis	parietal	SCAN
rs8010013	WDHD1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55879200-55885200	Weak transcription	Right Ventricle	heart
2	chr14:55879800-55885200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:55883200-55886800	Enhancers	Fetal Intestine Small	intestine
4	chr14:55883400-55885000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr14:55883600-55885400	Enhancers	Stomach Mucosa	stomach
6	chr14:55883800-55886000	Enhancers	HUVEC	blood vessel
7	chr14:55883800-55886000	Enhancers	K562	blood
8	chr14:55883800-55886400	Enhancers	Fetal Heart	heart
9	chr14:55884400-55885400	Enhancers	Left Ventricle	heart
10	chr14:55884400-55890200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:55884600-55886200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:55884800-55885800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:55884800-55885800	Weak transcription	Fetal Intestine Large	intestine

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