Variant report

Variant	rs9327144
Chromosome Location	chr5:119838694-119838695
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	chr5:119834205..119836736-chr5:119837818..119840539,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10035683	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10052263	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10052315	0.82[EUR][1000 genomes]
rs10052334	0.88[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10060164	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10064623	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10064951	0.89[AFR][1000 genomes]
rs10065330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10213989	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10214171	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs10477605	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10478471	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10478472	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10478473	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs10478474	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11949016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11957506	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs11960555	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs12109423	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13356306	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13356782	0.81[EUR][1000 genomes]
rs13357191	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13359288	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13359350	0.83[CEU][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.82[EUR][1000 genomes]
rs13360299	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs13361121	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13362523	0.84[CEU][hapmap];1.00[CHD][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs1378262	0.81[AFR][1000 genomes]
rs1454982	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16766	0.94[ASW][hapmap];0.85[LWK][hapmap];0.99[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs17491078	0.84[CEU][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap]
rs1823926	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1823927	0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2601210	0.87[AFR][1000 genomes]
rs2601211	0.82[ASW][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2604163	0.87[ASW][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.87[MKK][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs2604164	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2604165	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs2655066	0.85[CEU][hapmap];0.87[AFR][1000 genomes]
rs2655067	0.88[ASW][hapmap];0.81[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2655069	0.93[YRI][hapmap]
rs2691094	0.82[AFR][1000 genomes]
rs2691097	0.92[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2691100	0.85[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs300956	0.98[AFR][1000 genomes]
rs4476747	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4895159	0.82[EUR][1000 genomes]
rs4895160	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs4895258	0.81[EUR][1000 genomes]
rs4895259	0.81[EUR][1000 genomes]
rs6595236	1.00[CHD][hapmap];0.86[MEX][hapmap]
rs6595239	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6865123	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6871554	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6882134	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6888327	0.91[CEU][hapmap]
rs6892665	0.95[AFR][1000 genomes]
rs6895369	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73264200	0.87[EUR][1000 genomes]
rs73266107	0.85[EUR][1000 genomes]
rs7448156	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7702580	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs7706025	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7710004	0.94[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7710626	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7710848	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7710928	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7712847	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7728098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7733397	0.87[EUR][1000 genomes]
rs7733602	0.94[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs921782	0.82[AMR][1000 genomes]
rs9327145	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs9327146	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9327144	FAM170A	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119812200-119840000	Weak transcription	Fetal Lung	lung
2	chr5:119816600-119843000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:119834400-119843600	Weak transcription	HSMMtube	muscle
5	chr5:119835800-119843000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:119836400-119852400	Weak transcription	HSMM	muscle
7	chr5:119838200-119838800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:119838200-119838800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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