Variant report

Variant	rs1669300
Chromosome Location	chr12:57832438-57832439
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57832109..57834268-chr12:57844045..57846232,2	K562	blood:
2	chr12:57821992..57824694-chr12:57831155..57833406,2	MCF-7	breast:
3	chr12:57830432..57832842-chr12:57835916..57837461,2	MCF-7	breast:
4	chr12:57823623..57830869-chr12:57831560..57839261,11	K562	blood:
5	chr12:57822828..57827240-chr12:57828141..57836129,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179912	Chromatin interaction
ENSG00000175189	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000258001	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10735872	1.00[AMR][1000 genomes]
rs10783817	1.00[AMR][1000 genomes]
rs10783821	1.00[AMR][1000 genomes]
rs11172210	1.00[AMR][1000 genomes]
rs1709867	1.00[AMR][1000 genomes]
rs4760242	1.00[AMR][1000 genomes]
rs511225	1.00[LWK][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532993	1.00[LWK][hapmap]
rs569092	1.00[LWK][hapmap]
rs6421187	1.00[AMR][1000 genomes]
rs6581132	1.00[AMR][1000 genomes]
rs6581133	1.00[AMR][1000 genomes]
rs6581137	1.00[AMR][1000 genomes]
rs6581141	1.00[AMR][1000 genomes]
rs6581142	1.00[AMR][1000 genomes]
rs7136699	1.00[AMR][1000 genomes]
rs7294847	1.00[AMR][1000 genomes]
rs7488256	1.00[AMR][1000 genomes]
rs775247	1.00[LWK][hapmap]
rs776336	1.00[AMR][1000 genomes]
rs7963998	1.00[AMR][1000 genomes]
rs7975950	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 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	chr12:57825600-57848600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57829400-57843200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57831800-57833400	Enhancers	HepG2	liver
4	chr12:57831800-57833800	Flanking Active TSS	Liver	Liver
5	chr12:57832000-57833600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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