Variant report

Variant	rs7001517
Chromosome Location	chr8:131907452-131907453
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	JUND	chr8:131907214-131908120	SK-N-SH	brain:	n/a	chr8:131907501-131907509 chr8:131907501-131907508
2	FOSL2	chr8:131907410-131908021	SK-N-SH	brain:	n/a	chr8:131907501-131907509 chr8:131907501-131907508
3	NFIC	chr8:131907376-131908255	SK-N-SH	brain:	n/a	n/a
4	EP300	chr8:131907206-131908219	SK-N-SH	brain:	n/a	chr8:131907668-131907682
5	EP300	chr8:131906997-131908281	SK-N-SH	brain:	n/a	chr8:131907668-131907682
6	FOXM1	chr8:131907445-131907958	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr8:131907010-131908314	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr8:131907349-131908124	SK-N-SH	brain:	n/a	n/a
9	TEAD4	chr8:131907332-131908057	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr8:131907025-131908660	SK-N-SH	brain:	n/a	chr8:131907986-131907996 chr8:131907651-131907664 chr8:131907559-131907568 chr8:131907989-131907996 chr8:131907989-131907996 chr8:131907989-131907996
11	TCF12	chr8:131907323-131908249	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr8:131907404-131908169	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr8:131907134-131908302	SK-N-SH	brain:	n/a	n/a
14	EP300	chr8:131907423-131908057	SK-N-SH_RA	brain:	n/a	chr8:131907668-131907682
15	GATA3	chr8:131907156-131908350	SK-N-SH	brain:	n/a	chr8:131907986-131907996 chr8:131907651-131907664 chr8:131907559-131907568 chr8:131907989-131907996 chr8:131907989-131907996 chr8:131907989-131907996
16	POLR2A	chr8:131907438-131907983	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000253259	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10956558	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956559	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956561	0.92[JPT][hapmap]
rs12155612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547243	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28692964	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34269716	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35195692	1.00[ASN][1000 genomes]
rs3923135	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3923136	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3923137	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470860	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs7001417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001427	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011483	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7016933	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7461282	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7461459	1.00[ASN][1000 genomes]
rs7463591	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs7464362	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7813291	0.91[EUR][1000 genomes]
rs7821012	0.83[CHB][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1034107	chr8:131740146-131985765	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539747	chr8:131740146-131985765	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131895800-131914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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