Variant report

Variant	rs57490344
Chromosome Location	chr12:42881482-42881483
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42876080..42879188-chr12:42879362..42882133,3	MCF-7	breast:
2	chr12:42877152..42879572-chr12:42881161..42883024,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139174	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11829039	1.00[EUR][1000 genomes]
rs11830386	1.00[EUR][1000 genomes]
rs11831464	1.00[EUR][1000 genomes]
rs11832196	1.00[EUR][1000 genomes]
rs11832840	1.00[EUR][1000 genomes]
rs11833011	1.00[EUR][1000 genomes]
rs11833109	1.00[EUR][1000 genomes]
rs11833381	1.00[EUR][1000 genomes]
rs11834665	1.00[EUR][1000 genomes]
rs11837839	1.00[EUR][1000 genomes]
rs2406968	1.00[EUR][1000 genomes]
rs56691329	1.00[EUR][1000 genomes]
rs57647260	1.00[EUR][1000 genomes]
rs57955254	1.00[EUR][1000 genomes]
rs58229270	1.00[EUR][1000 genomes]
rs58676357	1.00[EUR][1000 genomes]
rs59190545	1.00[EUR][1000 genomes]
rs59577937	1.00[EUR][1000 genomes]
rs59645146	1.00[EUR][1000 genomes]
rs60314019	1.00[EUR][1000 genomes]
rs60982601	1.00[EUR][1000 genomes]
rs61067658	1.00[EUR][1000 genomes]
rs7299386	1.00[EUR][1000 genomes]
rs73270269	1.00[EUR][1000 genomes]
rs73270275	1.00[EUR][1000 genomes]
rs73270279	1.00[EUR][1000 genomes]
rs73270293	1.00[EUR][1000 genomes]
rs73272004	1.00[EUR][1000 genomes]
rs73272008	1.00[EUR][1000 genomes]
rs73272013	1.00[EUR][1000 genomes]
rs73272046	1.00[EUR][1000 genomes]
rs73272047	1.00[EUR][1000 genomes]
rs73272050	1.00[EUR][1000 genomes]
rs73272072	1.00[EUR][1000 genomes]
rs73272073	1.00[EUR][1000 genomes]
rs73272080	1.00[EUR][1000 genomes]
rs73272091	1.00[EUR][1000 genomes]
rs73272101	1.00[EUR][1000 genomes]
rs73273911	1.00[EUR][1000 genomes]
rs73273932	1.00[EUR][1000 genomes]
rs73273975	1.00[EUR][1000 genomes]
rs73277820	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73283792	1.00[EUR][1000 genomes]
rs73283799	1.00[EUR][1000 genomes]
rs73285617	1.00[EUR][1000 genomes]
rs73285619	1.00[EUR][1000 genomes]
rs73285621	1.00[EUR][1000 genomes]
rs73285641	1.00[EUR][1000 genomes]
rs73285662	1.00[EUR][1000 genomes]
rs73285670	1.00[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	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	chr12:42878200-42882000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:42878200-42882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:42878200-42883600	Weak transcription	Lung	lung
4	chr12:42878200-42884400	Weak transcription	Gastric	stomach
5	chr12:42878200-42885200	Weak transcription	Spleen	Spleen
6	chr12:42878400-42883600	Weak transcription	Left Ventricle	heart
7	chr12:42878400-42888800	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:42878600-42884400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:42878600-42889000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:42878600-42892600	Weak transcription	Right Ventricle	heart
11	chr12:42878600-42904800	Weak transcription	Right Atrium	heart
12	chr12:42878800-42896400	Weak transcription	Fetal Kidney	kidney
13	chr12:42878800-42898000	Weak transcription	HSMMtube	muscle
14	chr12:42878800-42902000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:42879000-42887600	Weak transcription	Osteobl	bone
16	chr12:42879000-42898000	Weak transcription	NH-A	brain
17	chr12:42879000-42901000	Weak transcription	HSMM	muscle
18	chr12:42879200-42888800	Weak transcription	Fetal Stomach	stomach
19	chr12:42880200-42881600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr12:42880400-42882200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr12:42880400-42882200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr12:42880600-42882200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr12:42880800-42889200	Weak transcription	HUVEC	blood vessel
24	chr12:42881000-42881600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr12:42881000-42882400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr12:42881000-42890200	Weak transcription	Fetal Lung	lung
27	chr12:42881200-42882400	Enhancers	Fetal Heart	heart
28	chr12:42881200-42886200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:42881400-42889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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