Variant report

Variant	rs510108
Chromosome Location	chr15:43605439-43605440
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43605237..43606957-chr15:43618740..43620246,2	K562	blood:
2	chr15:43601347..43604059-chr15:43604957..43607344,2	K562	blood:
3	chr15:43597654..43600044-chr15:43603733..43606121,2	MCF-7	breast:
4	chr15:43599537..43601993-chr15:43602616..43605553,2	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs1060939	0.85[AFR][1000 genomes]
rs1079309	0.91[CEU][hapmap]
rs1095386	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11070399	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1123947	0.92[ASN][1000 genomes]
rs1133395	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11637572	0.83[CHB][hapmap]
rs11858152	0.89[ASN][1000 genomes]
rs12101673	0.90[ASN][1000 genomes]
rs12102205	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12148735	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12323999	0.86[ASN][1000 genomes]
rs12324572	0.92[ASN][1000 genomes]
rs12324584	0.86[ASN][1000 genomes]
rs12905772	0.92[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1549523	0.92[ASN][1000 genomes]
rs1549525	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs16957627	0.92[ASN][1000 genomes]
rs16957630	0.92[ASN][1000 genomes]
rs16957632	0.92[ASN][1000 genomes]
rs1814323	0.86[AMR][1000 genomes]
rs1837959	0.96[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1837960	0.95[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs1869258	0.83[CEU][hapmap]
rs2012467	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2242068	0.83[ASN][1000 genomes]
rs2243434	0.96[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2244746	0.81[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2244981	0.91[CEU][hapmap];0.82[AMR][1000 genomes]
rs2249952	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2253268	0.91[CEU][hapmap]
rs2278856	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2278857	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2278859	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2278860	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2412778	0.92[ASN][1000 genomes]
rs2412779	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2412780	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2412781	0.91[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2412782	0.83[ASN][1000 genomes]
rs2439845	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2439846	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2444036	0.96[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2444251	0.91[CEU][hapmap]
rs2467733	0.84[ASN][1000 genomes]
rs2467737	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2467738	0.87[CEU][hapmap];0.80[AMR][1000 genomes]
rs2467741	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2467745	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2584700	0.89[EUR][1000 genomes]
rs2584701	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2584702	0.86[ASN][1000 genomes]
rs2584703	0.80[ASN][1000 genomes]
rs2602141	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28415933	0.92[ASN][1000 genomes]
rs28461955	0.92[ASN][1000 genomes]
rs28649346	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28653441	0.88[ASN][1000 genomes]
rs28702649	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28729853	0.89[ASN][1000 genomes]
rs2899082	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs3213990	0.96[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs3213991	0.90[ASN][1000 genomes]
rs3742969	0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs3742971	0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs3809482	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4075674	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4296223	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4401024	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4547312	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4583210	0.92[ASN][1000 genomes]
rs475227	0.84[AMR][1000 genomes]
rs478028	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs478104	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs480108	0.84[AFR][1000 genomes]
rs484029	0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs484846	1.00[ASN][1000 genomes]
rs485148	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs488756	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs491800	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs493177	0.83[AMR][1000 genomes]
rs493377	0.91[CEU][hapmap]
rs493444	0.86[AMR][1000 genomes]
rs498837	0.90[ASN][1000 genomes]
rs499035	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs501884	0.86[AMR][1000 genomes]
rs504417	0.86[AMR][1000 genomes]
rs505249	0.86[AMR][1000 genomes]
rs506120	0.83[CEU][hapmap]
rs507178	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs509306	0.85[EUR][1000 genomes]
rs511673	0.93[ASN][1000 genomes]
rs512431	0.84[AMR][1000 genomes]
rs512628	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs513970	0.87[AMR][1000 genomes]
rs518234	0.80[AMR][1000 genomes]
rs518261	0.80[AMR][1000 genomes]
rs523737	0.86[AMR][1000 genomes]
rs524527	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs526450	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs528517	0.95[ASN][1000 genomes]
rs530188	0.86[AMR][1000 genomes]
rs536313	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs538238	1.00[CEU][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs540031	0.95[ASN][1000 genomes]
rs542898	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs546722	0.80[AMR][1000 genomes]
rs552701	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs554001	0.86[AMR][1000 genomes]
rs556851	0.86[AMR][1000 genomes]
rs560134	0.86[AMR][1000 genomes]
rs567357	0.86[AMR][1000 genomes]
rs572959	0.86[AMR][1000 genomes]
rs573615	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs576557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493081	0.91[ASN][1000 genomes]
rs6493082	0.92[ASN][1000 genomes]
rs6493083	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6493084	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6493085	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6493086	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6493087	0.96[CHB][hapmap];0.84[JPT][hapmap]
rs6493088	0.90[ASN][1000 genomes]
rs689693	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs689767	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs690012	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs690276	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs690367	0.91[CEU][hapmap];0.82[AMR][1000 genomes]
rs690512	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs693510	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs694725	0.91[CEU][hapmap];0.80[AMR][1000 genomes]
rs7163245	0.89[ASN][1000 genomes]
rs7163288	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7165471	0.92[ASN][1000 genomes]
rs7166812	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7167882	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7168940	0.89[ASN][1000 genomes]
rs7170152	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7170489	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7172374	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7175434	0.90[ASN][1000 genomes]
rs7176849	0.96[CHB][hapmap];0.86[ASN][1000 genomes]
rs8033714	0.88[ASN][1000 genomes]
rs8039638	0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs8041132	0.92[ASN][1000 genomes]
rs8042688	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs825733	0.80[AMR][1000 genomes]
rs825739	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs825740	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs884704	0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs933941	0.92[ASN][1000 genomes]
rs956391	0.94[ASN][1000 genomes]
rs9920879	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs999026	0.83[ASN][1000 genomes]
rs999047	0.95[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs510108	ADAL	cis	lung	GTEx
rs510108	TGM5	Cis_1M	lymphoblastoid	RTeQTL
rs510108	STRCP1	cis	Esophagus Muscularis	GTEx
rs510108	ZSCAN29	cis	multi-tissue	Pritchard
rs510108	ADAL	cis	Nerve Tibial	GTEx
rs510108	ZSCAN29	cis	Thyroid	GTEx
rs510108	AC011330.5	cis	Artery Tibial	GTEx
rs510108	TGM5	cis	multi-tissue	Pritchard
rs510108	TGM7	cis	Esophagus Mucosa	GTEx
rs510108	AC011330.5	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43605400-43605600	Bivalent Enhancer	HSMMtube	muscle

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