Variant report

Variant	rs6676350
Chromosome Location	chr1:166128389-166128390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr1:166127954-166129353	SH-SY5Y	brain:	n/a	chr1:166128231-166128242 chr1:166128251-166128267 chr1:166129021-166129029 chr1:166129138-166129149 chr1:166129019-166129032 chr1:166129089-166129099 chr1:166128251-166128267 chr1:166128254-166128264 chr1:166129084-166129100 chr1:166128235-166128244 chr1:166128256-166128273

No.	Distal block	Cell Line	Cell type
1	chr1:166127362..166130632-chr1:166131122..166135211,3	K562	blood:
2	chr1:166127346..166129390-chr1:166139728..166141681,2	K562	blood:
3	chr1:166128277..166131609-chr1:166135442..166138684,3	K562	blood:

Variant related genes	Relation type
MIR921	TF binding region
ENSG00000230898	Chromatin interaction
ENSG00000188859	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10800192	1.00[JPT][hapmap]
rs10800195	1.00[ASN][1000 genomes]
rs10800196	1.00[ASN][1000 genomes]
rs10800212	1.00[TSI][hapmap]
rs10918380	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401942	0.93[ASN][1000 genomes]
rs12404396	0.94[ASN][1000 genomes]
rs12406386	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12406413	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407378	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410486	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410779	1.00[ASN][1000 genomes]
rs1376660	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451605	0.82[ASN][1000 genomes]
rs1551178	0.82[ASN][1000 genomes]
rs16856624	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16856639	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs16856659	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16856712	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1993106	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2116525	0.82[ASN][1000 genomes]
rs2163629	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4072243	1.00[ASN][1000 genomes]
rs4072267	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4657519	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4657521	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4657524	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6663116	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663205	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672329	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73034629	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034634	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73041277	1.00[ASN][1000 genomes]
rs73046941	1.00[ASN][1000 genomes]
rs73046946	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046949	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046954	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74118982	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74118983	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74118984	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523055	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7551664	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs970519	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973381	0.87[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs987131	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166119400-166128400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:166123800-166134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:166127200-166130400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:166127200-166134000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:166128000-166128400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:166128200-166128400	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links