Variant report

Variant	rs1894693
Chromosome Location	chr1:169467975-169467976
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169467114..169469226-chr1:169481035..169483350,2	K562	blood:
2	chr1:169456428..169460568-chr1:169464667..169468195,6	K562	blood:
3	chr1:169463126..169465352-chr1:169467023..169469114,3	K562	blood:
4	chr1:169465829..169468810-chr1:169477819..169479657,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10800452	0.87[AMR][1000 genomes]
rs10919184	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10919185	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12022575	0.85[ASN][1000 genomes]
rs12025910	0.90[AMR][1000 genomes]
rs12239964	0.90[AMR][1000 genomes]
rs12405595	0.90[AMR][1000 genomes]
rs1557571	0.87[AMR][1000 genomes]
rs1800595	0.87[AMR][1000 genomes]
rs1894691	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2008784	0.85[ASN][1000 genomes]
rs2227243	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2301516	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2301519	0.87[AMR][1000 genomes]
rs2301520	0.87[AMR][1000 genomes]
rs2420134	0.90[AMR][1000 genomes]
rs2420135	0.90[AMR][1000 genomes]
rs3766104	0.90[AMR][1000 genomes]
rs4440913	0.90[AMR][1000 genomes]
rs6013	0.90[AMR][1000 genomes]
rs6018	0.87[AMR][1000 genomes]
rs6024	0.87[AMR][1000 genomes]
rs6027	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72708008	0.90[AMR][1000 genomes]
rs72708013	0.90[AMR][1000 genomes]
rs72708039	0.87[AMR][1000 genomes]
rs916439	0.87[AMR][1000 genomes]
rs9332601	0.87[AMR][1000 genomes]
rs9332609	0.87[AMR][1000 genomes]
rs9332629	0.87[AMR][1000 genomes]
rs9332639	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9332641	0.90[AMR][1000 genomes]
rs9332646	0.90[AMR][1000 genomes]
rs9332654	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9332659	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9332661	0.90[AMR][1000 genomes]
rs9332673	0.90[AMR][1000 genomes]
rs9332676	0.90[AMR][1000 genomes]
rs966751	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1894693	NME7	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169465200-169468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:169465600-169468600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:169465800-169468800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:169467000-169469000	Enhancers	Placenta	Placenta
5	chr1:169467400-169468000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:169467800-169469600	Enhancers	HepG2	liver

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