Variant report

Variant	rs5000271
Chromosome Location	chr7:118026089-118026090
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	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11761947	0.80[EUR][1000 genomes]
rs11766194	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768889	0.80[EUR][1000 genomes]
rs11769403	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706182	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13221114	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13221120	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13224397	0.80[EUR][1000 genomes]
rs1548812	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17584234	0.82[EUR][1000 genomes]
rs17584359	0.80[EUR][1000 genomes]
rs1859132	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1859133	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs194577	0.80[EUR][1000 genomes]
rs194578	0.80[EUR][1000 genomes]
rs194579	0.80[EUR][1000 genomes]
rs2058418	0.80[EUR][1000 genomes]
rs20598	0.80[EUR][1000 genomes]
rs2192234	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402357	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34029977	0.80[EUR][1000 genomes]
rs34847140	0.80[EUR][1000 genomes]
rs35382009	0.80[EUR][1000 genomes]
rs35708505	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41944	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41946	0.80[EUR][1000 genomes]
rs41947	0.80[EUR][1000 genomes]
rs41948	0.80[EUR][1000 genomes]
rs41949	0.80[EUR][1000 genomes]
rs41950	0.80[EUR][1000 genomes]
rs41951	0.80[EUR][1000 genomes]
rs41952	0.80[EUR][1000 genomes]
rs41953	0.80[EUR][1000 genomes]
rs41954	0.80[EUR][1000 genomes]
rs41955	0.80[EUR][1000 genomes]
rs41956	0.80[EUR][1000 genomes]
rs41957	0.80[EUR][1000 genomes]
rs41958	0.80[EUR][1000 genomes]
rs41961	0.80[EUR][1000 genomes]
rs41962	0.81[EUR][1000 genomes]
rs41963	0.80[EUR][1000 genomes]
rs41964	0.80[EUR][1000 genomes]
rs41965	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41967	0.80[EUR][1000 genomes]
rs41968	0.80[EUR][1000 genomes]
rs41969	0.80[EUR][1000 genomes]
rs41970	0.80[EUR][1000 genomes]
rs41977	0.80[EUR][1000 genomes]
rs41979	0.80[EUR][1000 genomes]
rs41980	0.80[EUR][1000 genomes]
rs41981	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41982	0.80[EUR][1000 genomes]
rs41983	0.80[EUR][1000 genomes]
rs41984	0.80[EUR][1000 genomes]
rs41985	0.80[EUR][1000 genomes]
rs41986	0.80[EUR][1000 genomes]
rs41987	0.80[EUR][1000 genomes]
rs41988	0.80[EUR][1000 genomes]
rs41989	0.81[EUR][1000 genomes]
rs41990	0.80[EUR][1000 genomes]
rs41991	0.80[EUR][1000 genomes]
rs41992	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41993	0.80[EUR][1000 genomes]
rs41994	0.80[EUR][1000 genomes]
rs41995	0.80[EUR][1000 genomes]
rs41996	0.80[EUR][1000 genomes]
rs41997	0.80[EUR][1000 genomes]
rs42234	0.80[EUR][1000 genomes]
rs42376	0.80[EUR][1000 genomes]
rs42488	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4260839	0.84[EUR][1000 genomes]
rs4260840	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599745	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727865	0.80[EUR][1000 genomes]
rs4730853	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730862	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730866	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61328879	0.82[EUR][1000 genomes]
rs6466657	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6651117	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68189275	0.80[EUR][1000 genomes]
rs6942513	0.82[EUR][1000 genomes]
rs6964858	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71314617	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs769435	0.82[EUR][1000 genomes]
rs996726	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv889090	chr7:117865940-118067460	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1029103	chr7:117917362-118035987	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2764014	chr7:117917374-118035999	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv608262	chr7:117926753-118036133	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1804964	chr7:117960973-118188573	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv608263	chr7:117973445-118058927	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv889092	chr7:117977091-118067460	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv889093	chr7:117977091-118709754	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv889094	chr7:117981820-118186543	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv2829882	chr7:118009306-118222312	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv889095	chr7:118016847-118097679	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv981850	chr7:118023835-118030603	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5000271	LSM8	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118026000-118027400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:118026000-118027800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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