Variant report

Variant	rs485148
Chromosome Location	chr15:43587745-43587746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43586330..43589415-chr15:43618040..43621005,4	K562	blood:
2	chr15:43586588..43588941-chr15:43618040..43620629,3	K562	blood:
3	chr15:43582742..43587018-chr15:43587403..43593084,5	K562	blood:
4	chr15:43585264..43587919-chr15:43621418..43624239,2	K562	blood:

Variant related genes	Relation type
ENSG00000168806	Chromatin interaction
ENSG00000168803	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1095386	0.85[ASN][1000 genomes]
rs1095389	0.80[AMR][1000 genomes]
rs11070399	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1123947	0.82[ASN][1000 genomes]
rs1133395	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12101673	0.80[ASN][1000 genomes]
rs12102205	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12148735	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12324572	0.82[ASN][1000 genomes]
rs12905772	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549523	0.82[ASN][1000 genomes]
rs1549525	0.82[ASN][1000 genomes]
rs16957627	0.82[ASN][1000 genomes]
rs16957630	0.82[ASN][1000 genomes]
rs16957632	0.82[ASN][1000 genomes]
rs1814323	0.84[AMR][1000 genomes]
rs2278856	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2278857	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2278859	0.82[ASN][1000 genomes]
rs2278860	0.82[ASN][1000 genomes]
rs2412778	0.82[ASN][1000 genomes]
rs2412779	0.82[ASN][1000 genomes]
rs2412780	0.82[ASN][1000 genomes]
rs2412781	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2439845	0.80[AMR][1000 genomes]
rs2467737	0.80[AMR][1000 genomes]
rs2467745	0.80[AMR][1000 genomes]
rs2584700	0.82[EUR][1000 genomes]
rs2602141	0.80[AMR][1000 genomes]
rs28415933	0.82[ASN][1000 genomes]
rs28461955	0.82[ASN][1000 genomes]
rs28702649	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2899082	0.82[ASN][1000 genomes]
rs3213991	0.80[ASN][1000 genomes]
rs3742969	0.83[ASN][1000 genomes]
rs3742971	0.83[ASN][1000 genomes]
rs3809482	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4075674	0.82[ASN][1000 genomes]
rs4296223	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4401024	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4547312	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4583210	0.82[ASN][1000 genomes]
rs475227	0.82[AMR][1000 genomes]
rs478028	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs478104	0.91[ASN][1000 genomes]
rs484029	0.83[ASN][1000 genomes]
rs484846	0.90[ASN][1000 genomes]
rs488756	0.85[ASN][1000 genomes]
rs491800	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs493177	0.81[AMR][1000 genomes]
rs493444	0.84[AMR][1000 genomes]
rs498227	0.80[AMR][1000 genomes]
rs498837	0.80[ASN][1000 genomes]
rs499035	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs501884	0.84[AMR][1000 genomes]
rs504417	0.84[AMR][1000 genomes]
rs505249	0.84[AMR][1000 genomes]
rs507178	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs510108	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs511673	0.83[ASN][1000 genomes]
rs512431	0.82[AMR][1000 genomes]
rs512628	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs513970	0.85[AMR][1000 genomes]
rs518234	0.83[AMR][1000 genomes]
rs518261	0.83[AMR][1000 genomes]
rs523737	0.84[AMR][1000 genomes]
rs528517	0.85[ASN][1000 genomes]
rs530188	0.84[AMR][1000 genomes]
rs536313	0.82[AMR][1000 genomes]
rs538238	0.90[EUR][1000 genomes]
rs540031	0.85[ASN][1000 genomes]
rs546722	0.83[AMR][1000 genomes]
rs552701	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs554001	0.84[AMR][1000 genomes]
rs556851	0.84[AMR][1000 genomes]
rs560134	0.84[AMR][1000 genomes]
rs567357	0.84[AMR][1000 genomes]
rs572959	0.84[AMR][1000 genomes]
rs573615	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs576557	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6493081	0.81[ASN][1000 genomes]
rs6493082	0.82[ASN][1000 genomes]
rs6493083	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493084	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493085	0.82[ASN][1000 genomes]
rs6493086	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493088	0.80[ASN][1000 genomes]
rs689767	0.82[AMR][1000 genomes]
rs690276	0.83[AMR][1000 genomes]
rs690512	0.80[AMR][1000 genomes]
rs693510	0.83[AMR][1000 genomes]
rs7165471	0.82[ASN][1000 genomes]
rs7166812	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7167882	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7170152	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7170489	0.82[ASN][1000 genomes]
rs7172374	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7175434	0.81[ASN][1000 genomes]
rs8041132	0.82[ASN][1000 genomes]
rs8042688	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs825734	0.82[AMR][1000 genomes]
rs825739	0.94[ASN][1000 genomes]
rs825740	0.94[ASN][1000 genomes]
rs933941	0.82[ASN][1000 genomes]
rs956391	0.84[ASN][1000 genomes]
rs9920879	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][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	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs485148	AC011330.5	cis	Thyroid	GTEx
rs485148	ADAL	cis	Nerve Tibial	GTEx
rs485148	TGM5	Cis_1M	lymphoblastoid	RTeQTL
rs485148	STRCP1	cis	Esophagus Muscularis	GTEx
rs485148	ZSCAN29	cis	Thyroid	GTEx
rs485148	ADAL	cis	lung	GTEx
rs485148	TGM7	cis	Esophagus Mucosa	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43585800-43588800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:43586000-43589000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:43586400-43590000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr15:43586600-43590200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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