Variant report

Variant	rs4395226
Chromosome Location	chr2:173574330-173574331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173570740..173572513-chr2:173573082..173575442,2	K562	blood:
2	chr2:173571431..173574880-chr2:173584999..173587594,3	K562	blood:
3	chr2:173118171..173119697-chr2:173573423..173574950,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10181851	0.80[CHB][hapmap]
rs10930562	0.81[CHB][hapmap]
rs10930569	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1097478	0.85[ASN][1000 genomes]
rs11904158	0.81[CHB][hapmap]
rs12464110	0.81[ASN][1000 genomes]
rs12465795	0.81[ASN][1000 genomes]
rs12469378	0.82[ASN][1000 genomes]
rs12617921	0.82[ASN][1000 genomes]
rs12618078	0.82[ASN][1000 genomes]
rs12618132	0.82[ASN][1000 genomes]
rs12693008	0.81[ASN][1000 genomes]
rs13423020	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427921	0.93[TSI][hapmap]
rs1869923	0.81[ASN][1000 genomes]
rs2599260	0.81[ASN][1000 genomes]
rs2599261	0.81[ASN][1000 genomes]
rs2599262	0.81[ASN][1000 genomes]
rs2599263	0.81[ASN][1000 genomes]
rs2599264	0.81[ASN][1000 genomes]
rs2599265	0.81[ASN][1000 genomes]
rs2599266	0.81[ASN][1000 genomes]
rs2606062	0.81[ASN][1000 genomes]
rs2606063	0.81[ASN][1000 genomes]
rs2606064	0.81[ASN][1000 genomes]
rs2606065	0.81[ASN][1000 genomes]
rs2606066	0.81[ASN][1000 genomes]
rs2606067	0.81[ASN][1000 genomes]
rs2606070	0.81[ASN][1000 genomes]
rs28690076	0.98[AFR][1000 genomes]
rs3765065	0.81[CHB][hapmap]
rs3769321	0.81[CHB][hapmap]
rs59578456	0.81[ASN][1000 genomes]
rs62168072	0.98[AFR][1000 genomes]
rs6433376	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6709144	0.81[ASN][1000 genomes]
rs6710129	0.81[CHB][hapmap]
rs6724116	0.88[AFR][1000 genomes]
rs6733671	0.81[ASN][1000 genomes]
rs6733679	0.81[ASN][1000 genomes]
rs6738196	0.81[CHB][hapmap]
rs6743273	0.93[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs836590	0.81[ASN][1000 genomes]
rs836598	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs836608	0.87[ASN][1000 genomes]
rs836614	0.87[ASN][1000 genomes]
rs836616	0.87[ASN][1000 genomes]
rs836617	0.87[ASN][1000 genomes]
rs836629	0.81[ASN][1000 genomes]
rs836630	0.81[ASN][1000 genomes]
rs836631	0.81[ASN][1000 genomes]
rs836634	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173564200-173575600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173565800-173577200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:173566000-173575400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:173569400-173574600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:173572400-173575800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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