Variant report

Variant	rs2625445
Chromosome Location	chr8:61540328-61540329
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	chr8:61531872..61533936-chr8:61540143..61541661,2	MCF-7	breast:
2	chr8:61540133..61541635-chr8:61542072..61544913,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10091703	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10100740	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10101576	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10101714	0.85[ASN][1000 genomes]
rs10103438	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10109278	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10110436	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1014860	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10435602	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10957137	0.85[ASN][1000 genomes]
rs10957138	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957140	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957141	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957143	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957146	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957149	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11774500	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11778529	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11778708	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11778772	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11778888	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11782178	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11782463	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11784284	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786146	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11988528	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12678694	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12680436	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12681841	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13266707	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13267765	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13267828	0.85[ASN][1000 genomes]
rs13269925	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28495747	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28542403	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28678079	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2875966	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34234629	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34523017	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34775344	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35837434	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35853087	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs592014	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs602724	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs603239	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610455	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs624407	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471884	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs649634	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs664796	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66983460	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs671275	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs677467	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs684573	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987523	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6991529	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6993237	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996344	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6998294	0.85[ASN][1000 genomes]
rs7357376	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7462738	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7812421	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7820349	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7822391	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7832664	0.82[ASN][1000 genomes]
rs7832964	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842105	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9437	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643524	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2625445	RAB2A	cis	Heart Left Ventricle	GTEx
rs2625445	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
2	chr8:61519800-61541800	Weak transcription	Esophagus	oesophagus
3	chr8:61532600-61541600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:61534200-61540600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:61535000-61542000	Weak transcription	A549	lung
6	chr8:61535400-61541600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:61535400-61542200	Weak transcription	HSMMtube	muscle
8	chr8:61535600-61541600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:61536000-61540600	Weak transcription	HUVEC	blood vessel
10	chr8:61536000-61541600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:61536200-61541200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:61536200-61541600	Weak transcription	HMEC	breast
13	chr8:61538200-61544000	Weak transcription	Primary B cells from cord blood	blood
14	chr8:61540200-61540400	Enhancers	Stomach Mucosa	stomach

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