Variant report

Variant	rs9376814
Chromosome Location	chr6:144556920-144556921
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	chr6:144555277..144558244-chr6:144634800..144636756,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1124956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12661628	0.96[CEU][hapmap];0.87[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1322450	0.83[EUR][1000 genomes]
rs1322451	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1535476	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1547622	0.82[EUR][1000 genomes]
rs1985845	0.82[EUR][1000 genomes]
rs4895635	0.94[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap]
rs4895636	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4896707	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4896708	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6570613	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6570614	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6570618	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6930813	0.96[CEU][hapmap]
rs6941329	0.87[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7738503	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7750035	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7763017	0.83[EUR][1000 genomes]
rs7766690	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7767952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7770125	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9376812	0.96[CEU][hapmap];0.93[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9386062	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9390159	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9399474	0.96[ASN][1000 genomes]
rs9403554	0.92[EUR][1000 genomes]
rs9403555	0.92[EUR][1000 genomes]
rs9403558	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9376814	SASH1	cis	parietal	SCAN
rs9376814	GPR126	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144538200-144561400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:144553600-144560800	Weak transcription	Right Atrium	heart
3	chr6:144555800-144557200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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