Variant report

Variant	rs1731515
Chromosome Location	chr12:30460232-30460233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30130967..30132688-chr12:30459870..30462012,2	MCF-7	breast:
2	chr12:30448261..30450995-chr12:30458439..30460562,2	K562	blood:

Variant related genes	Relation type
ENSG00000257756	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10506065	1.00[YRI][hapmap]
rs10771699	0.95[EUR][1000 genomes]
rs10771700	0.95[EUR][1000 genomes]
rs11050798	1.00[YRI][hapmap]
rs1262338	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1320923	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1429626	0.82[EUR][1000 genomes]
rs1429636	0.83[ASN][1000 genomes]
rs1612581	0.85[JPT][hapmap];0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs1612791	0.83[ASN][1000 genomes]
rs1612949	0.83[ASN][1000 genomes]
rs1613702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1652185	0.84[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1652186	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs1652187	0.80[ASN][1000 genomes]
rs1652188	0.83[ASN][1000 genomes]
rs1652189	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1652191	0.83[ASN][1000 genomes]
rs1652193	0.83[ASN][1000 genomes]
rs1652195	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1731490	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1731491	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1731492	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1731493	0.83[ASN][1000 genomes]
rs1731500	0.83[ASN][1000 genomes]
rs1731503	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115684	1.00[YRI][hapmap]
rs2564526	0.83[ASN][1000 genomes]
rs2564527	0.83[ASN][1000 genomes]
rs2564593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700026	0.83[ASN][1000 genomes]
rs2700028	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2703363	0.83[ASN][1000 genomes]
rs354134	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs354137	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4032080	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4423269	0.82[YRI][hapmap]

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	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv8937	chr12:30457162-30462498	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 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	chr12:30458400-30460800	Enhancers	Placenta	Placenta
2	chr12:30459200-30461600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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