Variant report

Variant	rs7518312
Chromosome Location	chr1:86229439-86229440
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	chr1:86227581..86230010-chr1:86231577..86233689,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1047893	0.85[ASN][1000 genomes]
rs10873716	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10873717	0.82[ASN][1000 genomes]
rs11161649	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11161650	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11161651	0.91[ASN][1000 genomes]
rs11161654	0.82[ASN][1000 genomes]
rs11161656	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11161657	0.82[ASN][1000 genomes]
rs11161658	0.82[ASN][1000 genomes]
rs11161659	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11161660	0.91[ASN][1000 genomes]
rs11161661	0.82[ASN][1000 genomes]
rs11161662	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161663	0.82[ASN][1000 genomes]
rs11161664	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11161665	0.82[ASN][1000 genomes]
rs11161667	0.85[ASN][1000 genomes]
rs12058974	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12063702	0.85[ASN][1000 genomes]
rs12067749	0.87[AFR][1000 genomes]
rs12075929	0.81[AFR][1000 genomes]
rs12089500	0.81[ASN][1000 genomes]
rs12097932	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12564080	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12566746	0.81[ASN][1000 genomes]
rs12738010	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12739713	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12752817	0.85[ASN][1000 genomes]
rs12756013	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12757270	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12758511	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1889919	0.82[ASN][1000 genomes]
rs1889920	0.82[ASN][1000 genomes]
rs2069208	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2389972	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3753786	0.81[ASN][1000 genomes]
rs3753789	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3753790	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs414618	0.83[EUR][1000 genomes]
rs6576784	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6672312	0.81[ASN][1000 genomes]
rs6689168	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6697535	0.82[ASN][1000 genomes]
rs7554844	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7518312	ZNHIT6	cis	Adipose Subcutaneous	GTEx
rs7518312	C1orf181	Cis_1M	lymphoblastoid	RTeQTL
rs7518312	ZNHIT6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86222400-86241200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:86222400-86246400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86222400-86248200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:86222800-86254400	Weak transcription	Fetal Lung	lung
5	chr1:86226800-86238600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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