Variant report

Variant	rs1796391
Chromosome Location	chr12:42882153-42882154
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	chr12:42877152..42879572-chr12:42881161..42883024,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139174	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11181522	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1669915	0.94[EUR][1000 genomes]
rs1669916	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1669917	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1669921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1669926	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1669927	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1669929	0.87[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1796361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1796362	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1796364	0.82[ASN][1000 genomes]
rs1796390	1.00[CEU][hapmap];0.89[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2708068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42878200-42882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:42878200-42883600	Weak transcription	Lung	lung
3	chr12:42878200-42884400	Weak transcription	Gastric	stomach
4	chr12:42878200-42885200	Weak transcription	Spleen	Spleen
5	chr12:42878400-42883600	Weak transcription	Left Ventricle	heart
6	chr12:42878400-42888800	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:42878600-42884400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:42878600-42889000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:42878600-42892600	Weak transcription	Right Ventricle	heart
10	chr12:42878600-42904800	Weak transcription	Right Atrium	heart
11	chr12:42878800-42896400	Weak transcription	Fetal Kidney	kidney
12	chr12:42878800-42898000	Weak transcription	HSMMtube	muscle
13	chr12:42878800-42902000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:42879000-42887600	Weak transcription	Osteobl	bone
15	chr12:42879000-42898000	Weak transcription	NH-A	brain
16	chr12:42879000-42901000	Weak transcription	HSMM	muscle
17	chr12:42879200-42888800	Weak transcription	Fetal Stomach	stomach
18	chr12:42880400-42882200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr12:42880400-42882200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr12:42880600-42882200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr12:42880800-42889200	Weak transcription	HUVEC	blood vessel
22	chr12:42881000-42882400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr12:42881000-42890200	Weak transcription	Fetal Lung	lung
24	chr12:42881200-42882400	Enhancers	Fetal Heart	heart
25	chr12:42881200-42886200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:42881400-42889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:42881600-42886400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:42881800-42882200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr12:42882000-42882200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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