Variant report

Variant	rs4760692
Chromosome Location	chr12:48587549-48587550
allele	C/T
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	FOXA2	chr12:48587394-48587671	A549	lung:	n/a	n/a
2	FOS	chr12:48587487-48587616	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr12:48587450-48587753	SK-N-SH_RA	brain:	n/a	chr12:48587454-48587462

No.	Distal block	Cell Line	Cell type
1	chr12:48577879..48579746-chr12:48586715..48588244,2	K562	blood:
2	chr12:48583505..48585378-chr12:48585975..48588176,2	MCF-7	breast:
3	chr12:48582939..48585251-chr12:48585602..48588583,3	K562	blood:
4	chr12:48582939..48584871-chr12:48586838..48589561,2	K562	blood:

Variant related genes	Relation type
ENSG00000269514	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1018973	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10492080	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1074174	0.81[JPT][hapmap]
rs10783231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10783232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783233	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783237	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783239	0.85[AMR][1000 genomes]
rs11168449	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11168451	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11168455	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11609399	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11612578	0.95[JPT][hapmap]
rs11613485	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12822085	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1476608	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1489111	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs17122565	0.95[JPT][hapmap]
rs17122612	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17122651	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1968071	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2013956	0.84[AMR][1000 genomes]
rs2054902	0.85[JPT][hapmap]
rs2258342	0.92[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2409001	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2634679	0.85[JPT][hapmap]
rs2634699	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2732455	0.92[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2732475	0.83[CEU][hapmap]
rs2732477	0.92[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2732487	0.92[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs3742074	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4075913	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4141065	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4760611	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs4760620	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4760623	0.85[AMR][1000 genomes]
rs4760683	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs4760685	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4760698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580653	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6580656	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6580657	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726354	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7294641	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7296913	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7305418	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312326	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7313023	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7315258	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7485057	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7485824	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs757556	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7953726	0.85[AMR][1000 genomes]
rs7963934	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7969749	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7971668	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs879242	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs901962	0.85[JPT][hapmap]
rs901963	0.85[JPT][hapmap]
rs901964	0.85[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4760692	ZNF641	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48580000-48591000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:48583000-48590200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:48583800-48588200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:48585400-48590800	Weak transcription	HMEC	breast
5	chr12:48585800-48587600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:48585800-48589800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:48585800-48591400	Weak transcription	Esophagus	oesophagus
8	chr12:48587200-48588000	Enhancers	A549	lung
9	chr12:48587400-48589200	Enhancers	Hela-S3	cervix
10	chr12:48587400-48590600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:48587400-48590800	Weak transcription	NHEK	skin

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