Variant report

Variant	rs10230610
Chromosome Location	chr7:124425398-124425399
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:123794726..123796631-chr7:124424906..124425844,7	MCF-7	breast:
2	chr7:123795211..123796125-chr7:124424903..124425517,4	MCF-7	breast:
3	chr7:123810845..123811716-chr7:124424439..124425838,8	MCF-7	breast:
4	chr7:123792473..123793979-chr7:124425043..124425903,5	MCF-7	breast:
5	chr7:123741026..123741694-chr7:124424950..124425764,2	K562	blood:
6	chr7:124405179..124406000-chr7:124424981..124426141,3	MCF-7	breast:
7	chr7:123810410..123811815-chr7:124424995..124425894,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170775	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10224463	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10225552	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10226033	0.94[CEU][hapmap];0.88[CHB][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10228201	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10233385	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10233596	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10240673	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10241173	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10244817	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10246424	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10249722	0.86[ASN][1000 genomes]
rs10253613	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10264060	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10265763	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10271646	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.86[ASN][1000 genomes]
rs10281582	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10464529	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12111865	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1541416	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1541418	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17246404	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2107939	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2170352	0.86[CEU][hapmap]
rs2239532	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286175	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2402751	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402752	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28523990	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28622327	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28638102	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28728448	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28844358	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34986416	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36045816	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3925331	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4473974	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4532534	0.86[ASN][1000 genomes]
rs55964341	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56313563	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56321835	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56356267	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56387611	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59294613	0.86[ASN][1000 genomes]
rs59670428	0.86[ASN][1000 genomes]
rs66492217	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66513837	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66526112	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66665074	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66922607	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67084428	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67146030	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67552763	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67585224	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67939974	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68007199	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68091803	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6943653	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6952721	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6971909	0.86[ASN][1000 genomes]
rs720613	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720614	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs722560	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs727505	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7777947	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7790856	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7791430	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7795943	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7801661	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7806680	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9655845	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs988699	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs989177	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10230610	WASL	cis	cerebellum	SCAN
rs10230610	IMPDH1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124422600-124430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:124424800-124425400	Enhancers	HUVEC	blood vessel
3	chr7:124425000-124425400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:124425000-124425400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:124425000-124425400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr7:124425000-124425800	Enhancers	Brain Substantia Nigra	brain
7	chr7:124425000-124425800	Enhancers	Fetal Lung	lung
8	chr7:124425200-124425600	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:124425200-124425800	Enhancers	Fetal Kidney	kidney

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