Variant report

Variant	rs4668382
Chromosome Location	chr2:172150656-172150657
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172149770..172151760-chr2:172160381..172162101,2	K562	blood:
2	chr2:172148292..172151097-chr2:172165915..172167870,2	K562	blood:
3	chr2:172143733..172145363-chr2:172148715..172151458,2	K562	blood:
4	chr2:172146147..172149328-chr2:172150378..172154371,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1019363	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1035249	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10445762	1.00[ASW][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs17284660	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17285541	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2080602	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2111718	1.00[ASW][hapmap];0.84[TSI][hapmap]
rs2160849	1.00[ASW][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs2356706	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58816662	0.82[AMR][1000 genomes]
rs62181336	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62181337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62181340	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62181342	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72625232	0.82[AMR][1000 genomes]
rs7562674	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs7570294	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7570396	0.93[ASN][1000 genomes]
rs7595226	0.84[EUR][1000 genomes]
rs7598137	0.85[TSI][hapmap]

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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172144000-172154200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:172144200-172171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:172149800-172150800	Enhancers	NHEK	skin
4	chr2:172150200-172151200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:172150200-172151400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:172150200-172159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:172150400-172154400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:172150400-172154400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:172150400-172166400	Weak transcription	H1 Cell Line	embryonic stem cell

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