Variant report

Variant	rs5002232
Chromosome Location	chr7:117847110-117847111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:117841858..117844215-chr7:117844744..117847374,2	K562	blood:
2	chr7:117842197..117843985-chr7:117846070..117847812,2	MCF-7	breast:
3	chr7:117845682..117847702-chr7:117872075..117874755,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10085904	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs1015782	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10247768	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs10953864	0.80[EUR][1000 genomes]
rs11487110	0.93[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11542074	0.84[EUR][1000 genomes]
rs11974039	0.85[CEU][hapmap]
rs11983651	0.85[CEU][hapmap]
rs12154684	0.82[EUR][1000 genomes]
rs12537795	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs12670769	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1544584	0.84[EUR][1000 genomes]
rs17140984	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17141053	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2041527	0.92[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2058418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2215628	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs2286863	0.84[EUR][1000 genomes]
rs2286865	0.88[CEU][hapmap]
rs33924981	0.84[EUR][1000 genomes]
rs34019303	0.84[EUR][1000 genomes]
rs35218902	0.83[EUR][1000 genomes]
rs35485182	0.82[EUR][1000 genomes]
rs35708505	0.82[EUR][1000 genomes]
rs41944	0.84[EUR][1000 genomes]
rs41965	0.82[EUR][1000 genomes]
rs41981	0.82[EUR][1000 genomes]
rs41992	0.82[EUR][1000 genomes]
rs42488	0.82[EUR][1000 genomes]
rs45604739	0.84[EUR][1000 genomes]
rs4599745	0.82[EUR][1000 genomes]
rs4730837	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs4730853	0.81[EUR][1000 genomes]
rs61328879	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62466471	0.82[EUR][1000 genomes]
rs62466515	0.84[EUR][1000 genomes]
rs62468297	0.81[EUR][1000 genomes]
rs6466648	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6942513	0.96[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6956486	0.80[EUR][1000 genomes]
rs6964911	0.88[CEU][hapmap]
rs769435	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7786233	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs7799229	0.85[CEU][hapmap]
rs9641593	0.84[EUR][1000 genomes]
rs9656259	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9656260	0.80[EUR][1000 genomes]
rs996726	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889088	chr7:117744660-117913648	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3450079	chr7:117846216-117848114	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5002232	LSM8	cis	multi-tissue	Pritchard

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117833000-117854000	Weak transcription	HSMM	muscle
2	chr7:117833600-117854000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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