Variant report

Variant	rs10245764
Chromosome Location	chr7:48279601-48279602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48279225..48282090-chr7:48283159..48287155,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10224277	0.96[CEU][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs10248319	1.00[CHB][hapmap]
rs10252745	1.00[CHB][hapmap]
rs10255965	1.00[CHB][hapmap]
rs10271079	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10271099	0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10278267	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280046	0.86[MEX][hapmap]
rs10499676	0.88[GIH][hapmap];0.88[MEX][hapmap]
rs13233225	0.88[GIH][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13244649	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1526096	0.88[GIH][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs1526097	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1526100	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1608951	0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17547830	0.88[GIH][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17629765	0.88[GIH][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1880736	0.88[GIH][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1880737	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1949895	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2091345	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2222649	0.88[GIH][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34262035	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35060898	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35221001	0.82[AMR][1000 genomes]
rs35282127	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35688896	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6583478	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6583546	0.88[MEX][hapmap]
rs6957283	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6973302	0.86[EUR][1000 genomes]
rs7357102	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7776850	1.00[CHB][hapmap]
rs7779575	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs7779867	0.84[AMR][1000 genomes]
rs7785405	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7789281	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7789339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7797546	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7802973	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1033738	chr7:48143988-48349357	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10245764	ABCA13	cis	cerebellum	SCAN
rs10245764	NACAD	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48277600-48290400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:48279000-48279800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
3	chr7:48279400-48280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links