Variant report

Variant	rs2166554
Chromosome Location	chr2:178455824-178455825
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	chr2:178442079..178444998-chr2:178454524..178456659,2	K562	blood:
2	chr2:178454525..178456445-chr2:178573217..178575511,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10196345	0.88[ASN][1000 genomes]
rs10497501	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10930798	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930799	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930800	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10930801	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11684320	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11689550	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12463893	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12471741	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12612857	0.81[EUR][1000 genomes]
rs12616443	0.80[EUR][1000 genomes]
rs12622298	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12991272	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13000048	0.80[EUR][1000 genomes]
rs13013752	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13027299	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13403787	0.92[ASN][1000 genomes]
rs13404970	0.88[ASN][1000 genomes]
rs13417231	0.90[ASN][1000 genomes]
rs13430517	0.88[ASN][1000 genomes]
rs1348850	0.86[EUR][1000 genomes]
rs1405713	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1545364	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1548067	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1975543	0.88[EUR][1000 genomes]
rs2121430	0.80[EUR][1000 genomes]
rs3927978	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4243390	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4341974	0.80[EUR][1000 genomes]
rs4528793	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4893962	0.87[EUR][1000 genomes]
rs4893965	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4893966	0.89[EUR][1000 genomes]
rs57562172	0.88[ASN][1000 genomes]
rs59666005	0.88[ASN][1000 genomes]
rs6761593	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7559521	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7565022	0.80[EUR][1000 genomes]
rs9288004	0.88[ASN][1000 genomes]
rs9288005	0.88[ASN][1000 genomes]
rs952746	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2166554	DKFZp451M2119	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178445000-178457800	Weak transcription	Right Ventricle	heart
2	chr2:178451600-178458400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:178451600-178461400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:178455400-178456600	Weak transcription	HepG2	liver

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