Variant report

Variant	rs12476687
Chromosome Location	chr2:152182710-152182711
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	chr2:152181195..152183382-chr2:152234472..152237195,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1023635	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1048135	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11678123	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11678951	0.95[ASN][1000 genomes]
rs11680338	0.83[ASN][1000 genomes]
rs11683487	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11691055	0.82[ASN][1000 genomes]
rs11691217	0.82[ASN][1000 genomes]
rs11692626	0.85[EUR][1000 genomes]
rs11730	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12467046	0.83[ASN][1000 genomes]
rs12471191	0.82[ASN][1000 genomes]
rs12471886	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12624156	0.89[ASN][1000 genomes]
rs12693004	0.89[ASN][1000 genomes]
rs12987765	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12996459	0.83[ASN][1000 genomes]
rs12999396	0.85[EUR][1000 genomes]
rs13001328	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13004590	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13007728	0.81[AMR][1000 genomes]
rs13015862	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13018429	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13020443	0.85[EUR][1000 genomes]
rs13020962	0.83[ASN][1000 genomes]
rs13025888	0.80[ASN][1000 genomes]
rs13027425	0.83[ASN][1000 genomes]
rs17798290	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2113508	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2218880	0.81[ASN][1000 genomes]
rs2271811	0.83[ASN][1000 genomes]
rs2278090	0.88[ASN][1000 genomes]
rs34028108	0.91[ASN][1000 genomes]
rs34408744	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34452578	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34538548	0.88[ASN][1000 genomes]
rs35659175	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35723696	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35863408	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3771882	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3845843	0.85[EUR][1000 genomes]
rs3854012	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3856557	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4664322	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4664336	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4664347	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4664349	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4665114	0.83[ASN][1000 genomes]
rs4665137	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4665150	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4665168	0.90[ASN][1000 genomes]
rs55775354	0.83[ASN][1000 genomes]
rs56335263	0.89[ASN][1000 genomes]
rs56376752	0.82[ASN][1000 genomes]
rs57201382	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66521733	0.86[ASN][1000 genomes]
rs6707889	0.85[EUR][1000 genomes]
rs6726634	0.85[EUR][1000 genomes]
rs67303849	0.80[ASN][1000 genomes]
rs6739517	0.81[ASN][1000 genomes]
rs6752471	0.81[AMR][1000 genomes]
rs67725431	0.89[ASN][1000 genomes]
rs68058019	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73004003	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7349449	0.85[EUR][1000 genomes]
rs7558169	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7559296	0.81[ASN][1000 genomes]
rs7574228	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12476687	NMI	Cis_1M	lymphoblastoid	RTeQTL
rs12476687	TNFAIP6	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152181600-152183800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:152182000-152182800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:152182400-152183000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr2:152182400-152184000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:152182600-152183000	Active TSS	Primary B cells from cord blood	blood
6	chr2:152182600-152183800	Enhancers	Monocytes-CD14+_RO01746	blood

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