Variant report

Variant	rs73236154
Chromosome Location	chr4:56459758-56459759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:56459602-56461000	K562	blood:	n/a	n/a
2	POLR2A	chr4:56457051-56461679	K562	blood:	n/a	n/a
3	POLR2A	chr4:56457732-56460674	K562	blood:	n/a	n/a
4	POLR2A	chr4:56458002-56460867	K562	blood:	n/a	n/a
5	ZNF384	chr4:56459449-56459832	K562	blood:	n/a	n/a
6	CCNT2	chr4:56459692-56459866	K562	blood:	n/a	n/a
7	POLR2A	chr4:56458085-56461042	K562	blood:	n/a	n/a
8	POLR2A	chr4:56458216-56461090	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56459697..56462267-chr4:56481406..56483258,2	K562	blood:
2	chr4:56459163..56461447-chr4:56461922..56464276,2	K562	blood:

Variant related genes	Relation type
PDCL2	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11133406	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11722402	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11722645	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11723011	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11727450	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11727729	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11727831	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11728776	0.93[AMR][1000 genomes]
rs11729111	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11734493	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11735358	0.93[AMR][1000 genomes]
rs11735654	0.93[AMR][1000 genomes]
rs11735815	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12499085	0.93[AMR][1000 genomes]
rs12500147	0.93[AMR][1000 genomes]
rs12502173	0.93[AMR][1000 genomes]
rs12503046	0.93[AMR][1000 genomes]
rs12503479	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12506506	0.93[AMR][1000 genomes]
rs12507525	0.93[AMR][1000 genomes]
rs12508869	0.93[AMR][1000 genomes]
rs12509559	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2412668	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35256215	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55665531	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55885309	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56096459	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56260406	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73236155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236156	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236157	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236159	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236160	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236161	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236162	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236163	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73236164	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236166	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73236167	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73236168	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73236171	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73236173	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73236174	0.93[AMR][1000 genomes]
rs73236175	0.93[AMR][1000 genomes]
rs73236178	0.93[AMR][1000 genomes]
rs73236179	0.93[AMR][1000 genomes]
rs73236181	0.93[AMR][1000 genomes]
rs73236182	0.93[AMR][1000 genomes]
rs73236183	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73236184	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73236185	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73236186	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73236187	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73236154	NMU	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56441200-56464400	Weak transcription	K562	blood
2	chr4:56458600-56460000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:56458600-56463800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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