Variant report

Variant	rs7971509
Chromosome Location	chr12:42883251-42883252
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12302804	0.82[AFR][1000 genomes]
rs12309609	0.82[AFR][1000 genomes]
rs12309863	0.82[AFR][1000 genomes]
rs12319444	0.82[AFR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42878200-42883600	Weak transcription	Lung	lung
2	chr12:42878200-42884400	Weak transcription	Gastric	stomach
3	chr12:42878200-42885200	Weak transcription	Spleen	Spleen
4	chr12:42878400-42883600	Weak transcription	Left Ventricle	heart
5	chr12:42878400-42888800	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:42878600-42884400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:42878600-42889000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:42878600-42892600	Weak transcription	Right Ventricle	heart
9	chr12:42878600-42904800	Weak transcription	Right Atrium	heart
10	chr12:42878800-42896400	Weak transcription	Fetal Kidney	kidney
11	chr12:42878800-42898000	Weak transcription	HSMMtube	muscle
12	chr12:42878800-42902000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:42879000-42887600	Weak transcription	Osteobl	bone
14	chr12:42879000-42898000	Weak transcription	NH-A	brain
15	chr12:42879000-42901000	Weak transcription	HSMM	muscle
16	chr12:42879200-42888800	Weak transcription	Fetal Stomach	stomach
17	chr12:42880800-42889200	Weak transcription	HUVEC	blood vessel
18	chr12:42881000-42890200	Weak transcription	Fetal Lung	lung
19	chr12:42881200-42886200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:42881400-42889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:42881600-42886400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:42882200-42884200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:42882400-42883600	Weak transcription	Fetal Heart	heart
24	chr12:42882800-42883400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:42882800-42884600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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