Variant report

Variant	rs597888
Chromosome Location	chr12:74957627-74957628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:74941646..74944440-chr12:74957364..74960254,2	K562	blood:
2	chr12:74930357..74933246-chr12:74957295..74959275,2	MCF-7	breast:
3	chr12:74956955..74959194-chr12:74962052..74966654,4	K562	blood:
4	chr12:74943282..74945099-chr12:74957128..74958764,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257386	Chromatin interaction
ENSG00000253719	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10785126	0.81[ASN][1000 genomes]
rs10879793	0.81[ASN][1000 genomes]
rs12816388	0.86[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1389492	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1461048	0.81[ASN][1000 genomes]
rs1461050	0.82[JPT][hapmap]
rs1493797	0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1493805	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1493806	0.81[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2605330	0.81[ASN][1000 genomes]
rs2605338	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2605374	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2605376	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2605377	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2613882	0.90[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2613888	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2613895	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2613900	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2613901	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2613903	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2641467	0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2641468	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2641481	0.80[ASN][1000 genomes]
rs628576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs647129	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8744	0.92[CEU][hapmap];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74957400-74957800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:74957400-74958000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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