Variant report

Variant	rs16823305
Chromosome Location	chr2:144661857-144661858
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	chr2:144657493..144659375-chr2:144660601..144662618,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1257342	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1257360	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1257362	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1257363	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1257364	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1257366	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1316847	0.94[EUR][1000 genomes]
rs16823279	0.92[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16823281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868078	0.93[ASN][1000 genomes]
rs1882621	1.00[EUR][1000 genomes]
rs1882623	1.00[EUR][1000 genomes]
rs1946166	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2091806	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2141918	1.00[EUR][1000 genomes]
rs2178733	0.94[EUR][1000 genomes]
rs2178736	0.94[EUR][1000 genomes]
rs2204902	0.94[EUR][1000 genomes]
rs2381509	1.00[EUR][1000 genomes]
rs2381547	0.94[EUR][1000 genomes]
rs2381548	0.94[EUR][1000 genomes]
rs2381549	1.00[EUR][1000 genomes]
rs2381555	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs2381556	0.92[CHB][hapmap];0.94[EUR][1000 genomes]
rs2381558	0.92[CHB][hapmap];0.94[EUR][1000 genomes]
rs2593715	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707796	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2707802	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4142821	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4257339	0.94[EUR][1000 genomes]
rs4268884	1.00[EUR][1000 genomes]
rs4380171	0.94[EUR][1000 genomes]
rs4662215	0.92[CHB][hapmap];0.94[EUR][1000 genomes]
rs4662349	0.94[EUR][1000 genomes]
rs4662350	0.94[EUR][1000 genomes]
rs58626411	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59036247	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6430044	0.93[ASN][1000 genomes]
rs6724189	0.94[EUR][1000 genomes]
rs6760461	0.94[EUR][1000 genomes]
rs7606749	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144659400-144664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:144661400-144662400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:144661400-144663200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:144661400-144671600	Weak transcription	Ovary	ovary

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