Variant report

Variant	rs55818759
Chromosome Location	chr12:119589849-119589850
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119585579..119587341-chr12:119589077..119590928,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1896140	0.96[EUR][1000 genomes]
rs55639526	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73213430	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73213433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213438	0.91[EUR][1000 genomes]
rs73213442	0.89[EUR][1000 genomes]
rs7485049	0.84[EUR][1000 genomes]
rs7486691	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119571200-119594600	Weak transcription	Fetal Brain Male	brain
2	chr12:119583600-119591200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:119583800-119591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:119586000-119590800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:119586200-119590800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:119586200-119591000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:119586400-119590600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:119586600-119591200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:119588400-119590600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr12:119589000-119590000	ZNF genes & repeats	Fetal Brain Female	brain
11	chr12:119589000-119590400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr12:119589200-119590000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr12:119589200-119590000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr12:119589200-119590200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr12:119589200-119590800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:119589800-119590600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:119589800-119590800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:119589800-119590800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:119589800-119591800	Weak transcription	Brain Germinal Matrix	brain
20	chr12:119589800-119594200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:119589800-119595000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:119589800-119598200	Weak transcription	Brain Inferior Temporal Lobe	brain

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