Variant report

Variant	rs17325908
Chromosome Location	chr5:112649450-112649451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:32159312..32160248-chr5:112648833..112649616,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10519348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10519354	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11241202	0.91[ASN][1000 genomes]
rs11738347	0.83[ASN][1000 genomes]
rs11738587	0.91[ASN][1000 genomes]
rs11739509	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11740807	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11741176	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11741860	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746828	0.87[ASN][1000 genomes]
rs11748646	0.91[ASN][1000 genomes]
rs11750254	0.87[ASN][1000 genomes]
rs11750752	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13162970	1.00[JPT][hapmap]
rs13177178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13182359	1.00[JPT][hapmap]
rs1318772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13188803	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs164252	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17326496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17327139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs182988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2120348	1.00[CHB][hapmap]
rs255857	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26980	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26982	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26984	1.00[JPT][hapmap]
rs26989	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26990	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2860483	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34437714	0.83[ASN][1000 genomes]
rs34441430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34539248	0.83[ASN][1000 genomes]
rs34614757	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34625553	0.87[ASN][1000 genomes]
rs34766128	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs348919	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs348935	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs348939	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35111059	0.91[ASN][1000 genomes]
rs35352601	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35451724	0.87[ASN][1000 genomes]
rs36120874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36611	1.00[JPT][hapmap]
rs36613	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs414475	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs446272	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs458055	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs58833244	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66629800	0.87[ASN][1000 genomes]
rs66957398	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67344014	0.91[ASN][1000 genomes]
rs67767339	0.87[ASN][1000 genomes]
rs67894881	0.91[ASN][1000 genomes]
rs68189049	0.91[ASN][1000 genomes]
rs6861939	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs71577443	0.91[ASN][1000 genomes]
rs72788641	0.91[ASN][1000 genomes]
rs72797916	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv528805	chr5:112641650-112650751	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112649000-112649800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:112649200-112655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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