Variant report

Variant	rs17325193
Chromosome Location	chr7:124648385-124648386
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	chr7:124610367..124612617-chr7:124646921..124649703,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1009450	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs10226033	0.94[CEU][hapmap]
rs10271646	0.95[CEU][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap]
rs10464529	0.95[CEU][hapmap]
rs10954065	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11532793	0.84[ASN][1000 genomes]
rs11534064	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs11536526	0.83[ASN][1000 genomes]
rs12540017	1.00[YRI][hapmap]
rs1383748	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs1568883	0.89[ASN][1000 genomes]
rs17246404	0.95[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs17327014	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs17327181	0.87[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap]
rs17327715	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs17387389	0.95[CHB][hapmap]
rs17387591	0.95[CHB][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap]
rs2054586	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2170352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2293346	0.95[CHB][hapmap];0.88[CHD][hapmap]
rs3214004	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap]
rs4142718	0.87[ASN][1000 genomes]
rs55890146	0.83[ASN][1000 genomes]
rs56069273	0.82[ASN][1000 genomes]
rs56216989	0.87[ASN][1000 genomes]
rs56269941	0.82[ASN][1000 genomes]
rs58618031	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59379598	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59673207	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62478792	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs650030	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs66756015	0.87[ASN][1000 genomes]
rs66852389	0.87[ASN][1000 genomes]
rs669064	0.95[CHB][hapmap];0.83[CHD][hapmap]
rs67277928	0.81[ASN][1000 genomes]
rs67607629	0.82[ASN][1000 genomes]
rs67817822	0.82[ASN][1000 genomes]
rs67870530	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs685345	0.95[CHB][hapmap]
rs6945199	0.80[ASN][1000 genomes]
rs6972471	1.00[YRI][hapmap]
rs727505	0.95[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs73225498	0.84[ASN][1000 genomes]
rs7801661	0.95[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs7809070	1.00[YRI][hapmap]
rs9640831	0.83[ASN][1000 genomes]
rs9655845	1.00[CEU][hapmap]

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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1016655	chr7:124575684-124684279	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1032336	chr7:124590688-124673373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1025873	chr7:124591433-124668423	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2761363	chr7:124591433-124673373	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1034654	chr7:124591433-124673373	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv889139	chr7:124600505-124767295	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv608343	chr7:124610346-124674022	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17325193	LMOD2	cis	cerebellum	SCAN
rs17325193	IMPDH1	cis	parietal	SCAN
rs17325193	WASL	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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