Variant report

Variant	rs12495166
Chromosome Location	chr3:112873347-112873348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112872686..112875261-chr3:112875839..112878613,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240057	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10511320	1.00[ASN][1000 genomes]
rs10511322	1.00[ASN][1000 genomes]
rs11919752	1.00[ASN][1000 genomes]
rs11922222	1.00[ASN][1000 genomes]
rs12486061	1.00[ASN][1000 genomes]
rs12486305	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488102	1.00[ASN][1000 genomes]
rs12495521	1.00[ASN][1000 genomes]
rs13086237	0.90[AMR][1000 genomes]
rs2613954	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34162902	0.92[AMR][1000 genomes]
rs34229546	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34302044	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35097816	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35728677	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35840548	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36107112	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58152322	0.80[EUR][1000 genomes]
rs7622601	1.00[ASN][1000 genomes]
rs931699	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830509	1.00[ASN][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	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	chr3:112868000-112873400	Enhancers	Colon Smooth Muscle	Colon
2	chr3:112868200-112874400	Weak transcription	Placenta	Placenta
3	chr3:112869600-112874600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:112871000-112876600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:112871000-112881400	Weak transcription	Fetal Lung	lung
6	chr3:112871400-112875800	Weak transcription	Fetal Stomach	stomach
7	chr3:112871400-112876000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:112871400-112876000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:112871600-112875200	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:112872000-112873400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:112872400-112876000	Weak transcription	Adipose Nuclei	Adipose
12	chr3:112872800-112874600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:112873000-112873400	Enhancers	GM12878-XiMat	blood
14	chr3:112873000-112874400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:112873000-112875600	Weak transcription	Fetal Kidney	kidney
16	chr3:112873000-112875800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:112873000-112875800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:112873000-112876000	Weak transcription	HSMMtube	muscle
19	chr3:112873000-112876200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:112873200-112874800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:112873200-112874800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:112873200-112875800	Weak transcription	Rectal Smooth Muscle	rectum

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