Variant report

Variant	rs1689603
Chromosome Location	chr12:58048939-58048940
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	chr12:58046923..58049149-chr12:58061909..58063818,2	K562	blood:

Variant related genes	Relation type
ENSG00000238436	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1082502	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1082503	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1092472	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11172277	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12302351	0.84[AMR][1000 genomes]
rs12302451	0.84[AMR][1000 genomes]
rs12314562	0.86[AMR][1000 genomes]
rs12809742	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1585781	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1629032	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1678511	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1678512	0.89[AMR][1000 genomes]
rs1678513	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1678515	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1678516	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1678519	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1678520	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1678522	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1678527	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1678528	0.81[ASN][1000 genomes]
rs1678529	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1678530	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1678531	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1678532	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1678534	0.86[AMR][1000 genomes]
rs1678539	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1689592	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1689594	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1689595	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1689596	0.90[AMR][1000 genomes]
rs1689597	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1689600	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1689601	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1689604	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2619466	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4760165	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs703832	0.81[AMR][1000 genomes]
rs774887	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs774888	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs774891	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs810204	0.80[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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1802058	chr12:58028127-58062667	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
5	nsv559044	chr12:58028671-58065448	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	nsv975499	chr12:58034418-58068937	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv508676	chr12:58045136-58098538	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1689603	TSFM	Cis_1M	lymphoblastoid	RTeQTL
rs1689603	FAM119B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58048600-58049400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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