Variant report

Variant	rs12077254
Chromosome Location	chr1:221772404-221772405
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	chr1:221766078..221767726-chr1:221770721..221773346,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11118720	1.00[AMR][1000 genomes]
rs11118752	1.00[AMR][1000 genomes]
rs12064948	1.00[AMR][1000 genomes]
rs12065046	1.00[AMR][1000 genomes]
rs12071559	1.00[AMR][1000 genomes]
rs12075523	1.00[AMR][1000 genomes]
rs12085787	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12086226	1.00[AMR][1000 genomes]
rs12087035	1.00[AMR][1000 genomes]
rs12089533	1.00[AMR][1000 genomes]
rs12090444	1.00[AMR][1000 genomes]
rs12095681	1.00[AMR][1000 genomes]
rs57185653	1.00[AMR][1000 genomes]
rs60434045	1.00[AMR][1000 genomes]
rs74144265	1.00[AMR][1000 genomes]
rs74144283	1.00[AMR][1000 genomes]
rs74144295	1.00[AMR][1000 genomes]
rs74145351	1.00[AMR][1000 genomes]
rs74145380	1.00[AMR][1000 genomes]
rs74146103	1.00[AMR][1000 genomes]
rs74147805	1.00[AMR][1000 genomes]
rs9943267	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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1009838	chr1:221692621-221773945	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535301	chr1:221692621-221773945	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1808490	chr1:221743979-221779026	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1814250	chr1:221746140-221772404	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221771200-221773000	Enhancers	Brain Cingulate Gyrus	brain
2	chr1:221771200-221773400	Enhancers	Brain Substantia Nigra	brain
3	chr1:221771800-221772600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:221771800-221784600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:221772000-221773000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:221772000-221779000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:221772200-221773000	Enhancers	Brain Hippocampus Middle	brain
8	chr1:221772200-221773200	Enhancers	Brain Inferior Temporal Lobe	brain

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