Variant report

Variant	rs12148735
Chromosome Location	chr15:43589582-43589583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43588902..43592574-chr15:43595588..43598249,3	K562	blood:
2	chr15:43582742..43587018-chr15:43587403..43593084,5	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1095386	0.90[ASN][1000 genomes]
rs11070399	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1123947	0.87[ASN][1000 genomes]
rs1133395	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11858152	0.84[ASN][1000 genomes]
rs12101673	0.85[ASN][1000 genomes]
rs12102205	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12323999	0.81[ASN][1000 genomes]
rs12324572	0.87[ASN][1000 genomes]
rs12324584	0.81[ASN][1000 genomes]
rs12905772	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549523	0.87[ASN][1000 genomes]
rs1549525	0.87[ASN][1000 genomes]
rs16957627	0.87[ASN][1000 genomes]
rs16957630	0.87[ASN][1000 genomes]
rs16957632	0.87[ASN][1000 genomes]
rs1814323	0.86[AMR][1000 genomes]
rs1837959	0.80[ASN][1000 genomes]
rs1837960	0.80[ASN][1000 genomes]
rs2249952	0.81[EUR][1000 genomes]
rs2278856	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278857	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278859	0.87[ASN][1000 genomes]
rs2278860	0.87[ASN][1000 genomes]
rs2412778	0.87[ASN][1000 genomes]
rs2412779	0.87[ASN][1000 genomes]
rs2412780	0.87[ASN][1000 genomes]
rs2412781	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2439845	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2467737	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2467745	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2584700	0.86[EUR][1000 genomes]
rs2584701	0.81[ASN][1000 genomes]
rs2584702	0.81[ASN][1000 genomes]
rs2602141	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28415933	0.87[ASN][1000 genomes]
rs28461955	0.87[ASN][1000 genomes]
rs28653441	0.83[ASN][1000 genomes]
rs28702649	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28729853	0.83[ASN][1000 genomes]
rs2899082	0.87[ASN][1000 genomes]
rs3213990	0.84[ASN][1000 genomes]
rs3213991	0.85[ASN][1000 genomes]
rs3742969	0.88[ASN][1000 genomes]
rs3742971	0.88[ASN][1000 genomes]
rs3809482	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4075674	0.87[ASN][1000 genomes]
rs4296223	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4401024	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4547312	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4583210	0.87[ASN][1000 genomes]
rs475227	0.84[AMR][1000 genomes]
rs478028	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs478104	0.96[ASN][1000 genomes]
rs484029	0.88[ASN][1000 genomes]
rs484846	0.94[ASN][1000 genomes]
rs485148	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs488756	0.90[ASN][1000 genomes]
rs491800	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs493177	0.83[AMR][1000 genomes]
rs493444	0.86[AMR][1000 genomes]
rs498837	0.85[ASN][1000 genomes]
rs499035	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs501884	0.86[AMR][1000 genomes]
rs504417	0.86[AMR][1000 genomes]
rs505249	0.86[AMR][1000 genomes]
rs507178	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs509306	0.82[EUR][1000 genomes]
rs510108	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs511673	0.88[ASN][1000 genomes]
rs512431	0.84[AMR][1000 genomes]
rs512628	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[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]
rs528517	0.90[ASN][1000 genomes]
rs530188	0.86[AMR][1000 genomes]
rs536313	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs538238	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs540031	0.90[ASN][1000 genomes]
rs546722	0.80[AMR][1000 genomes]
rs552701	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs576557	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493081	0.86[ASN][1000 genomes]
rs6493082	0.87[ASN][1000 genomes]
rs6493083	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6493084	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6493085	0.87[ASN][1000 genomes]
rs6493086	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6493088	0.85[ASN][1000 genomes]
rs689693	0.80[EUR][1000 genomes]
rs689767	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs690012	0.81[EUR][1000 genomes]
rs690276	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs690512	0.80[AMR][1000 genomes]
rs693510	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7163245	0.83[ASN][1000 genomes]
rs7165471	0.87[ASN][1000 genomes]
rs7166812	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7167882	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7168940	0.84[ASN][1000 genomes]
rs7170152	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7170489	0.87[ASN][1000 genomes]
rs7172374	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7175434	0.85[ASN][1000 genomes]
rs7176849	0.81[ASN][1000 genomes]
rs8033714	0.83[ASN][1000 genomes]
rs8039638	0.84[ASN][1000 genomes]
rs8041132	0.87[ASN][1000 genomes]
rs8042688	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs825733	0.80[AMR][1000 genomes]
rs825739	0.99[ASN][1000 genomes]
rs825740	0.99[ASN][1000 genomes]
rs933941	0.87[ASN][1000 genomes]
rs956391	0.88[ASN][1000 genomes]
rs9920879	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12148735	AC011330.5	cis	Artery Tibial	GTEx
rs12148735	ADAL	cis	lung	GTEx
rs12148735	ADAL	cis	Nerve Tibial	GTEx
rs12148735	STRCP1	cis	Esophagus Muscularis	GTEx
rs12148735	ZSCAN29	cis	Thyroid	GTEx
rs12148735	AC011330.5	cis	Thyroid	GTEx
rs12148735	TGM7	cis	Esophagus Mucosa	GTEx
rs12148735	TGM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43586400-43590000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr15:43586600-43590200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:43588800-43590600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr15:43589200-43589600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:43589200-43590000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:43589200-43590400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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