Variant report

Variant	rs1894691
Chromosome Location	chr1:169467610-169467611
allele	A/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	chr1:169454096..169455611-chr1:169466158..169467911,2	K562	blood:
5	chr1:169465829..169468810-chr1:169477819..169479657,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213062	Chromatin interaction
ENSG00000117479	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10919127	1.00[ASW][hapmap]
rs10919147	1.00[ASW][hapmap]
rs10919158	1.00[ASW][hapmap]
rs10919184	1.00[AFR][1000 genomes]
rs10919185	1.00[AFR][1000 genomes]
rs12022575	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12024849	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12025910	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs17345426	1.00[ASW][hapmap]
rs17518147	1.00[ASW][hapmap]
rs1894693	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1894703	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2008784	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2227243	1.00[AFR][1000 genomes]
rs2285212	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2301516	1.00[AFR][1000 genomes]
rs35337011	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3766104	1.00[CHD][hapmap]
rs6013	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs6015	0.87[CHD][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap]
rs6018	1.00[ASW][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs6027	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs6033	0.82[JPT][hapmap];1.00[MKK][hapmap]
rs6036	0.87[CHD][hapmap];0.82[JPT][hapmap]
rs6037	0.87[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs7556463	1.00[ASW][hapmap]
rs9332583	0.82[JPT][hapmap]
rs9332629	1.00[ASW][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap]
rs9332639	1.00[AFR][1000 genomes]
rs9332654	1.00[AFR][1000 genomes]
rs9332659	1.00[AFR][1000 genomes]
rs9332661	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs966751	1.00[AFR][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
rs1894691	NME7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 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	chr1:169467000-169467800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:169467000-169469000	Enhancers	Placenta	Placenta
6	chr1:169467400-169467800	Weak transcription	HepG2	liver
7	chr1:169467400-169468000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:169467600-169467800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links