Variant report

Variant	rs12818034
Chromosome Location	chr12:42943436-42943437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12821463	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2406870	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35672994	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311677	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1036522	chr12:42926075-42961887	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42913800-42957600	Weak transcription	HMEC	breast
2	chr12:42914400-42952600	Weak transcription	Aorta	Aorta
3	chr12:42914600-42954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:42928200-42946600	Weak transcription	Spleen	Spleen
5	chr12:42929200-42944600	Weak transcription	Fetal Kidney	kidney
6	chr12:42929600-42950200	Weak transcription	Left Ventricle	heart
7	chr12:42935600-42943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:42937800-42943800	Strong transcription	HUVEC	blood vessel
9	chr12:42938400-42946800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:42938600-42943800	Strong transcription	Osteobl	bone
11	chr12:42939800-42944400	Strong transcription	HSMM	muscle
12	chr12:42939800-42971000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:42940800-42943600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:42941200-42943800	Strong transcription	HSMMtube	muscle
15	chr12:42941200-42963400	Weak transcription	NHEK	skin
16	chr12:42941400-42946200	Weak transcription	Adipose Nuclei	Adipose
17	chr12:42941400-42947400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:42941400-42952200	Weak transcription	Ovary	ovary
19	chr12:42941800-42944000	Strong transcription	Fetal Muscle Leg	muscle
20	chr12:42942000-42944000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:42942400-42944000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:42942400-42950800	Weak transcription	Psoas Muscle	Psoas
23	chr12:42942600-42951200	Weak transcription	Fetal Lung	lung
24	chr12:42943000-42944000	Strong transcription	Fetal Heart	heart
25	chr12:42943200-42943600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:42943200-42943800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:42943200-42944000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:42943200-42944200	Strong transcription	Fetal Stomach	stomach
29	chr12:42943200-42944800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:42943400-42943600	Genic enhancers	NH-A	brain
31	chr12:42943400-42943800	Enhancers	Right Atrium	heart

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