Variant report

Variant	rs1669947
Chromosome Location	chr12:42942234-42942235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10880314	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1669947	ZCRB1	cis	parietal	SCAN

Chromatin state (count:30 , 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	chr12:42919000-42942400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:42923800-42943200	Weak transcription	Fetal Stomach	stomach
6	chr12:42928200-42946600	Weak transcription	Spleen	Spleen
7	chr12:42929200-42944600	Weak transcription	Fetal Kidney	kidney
8	chr12:42929600-42950200	Weak transcription	Left Ventricle	heart
9	chr12:42934200-42943000	Weak transcription	Fetal Heart	heart
10	chr12:42934200-42943200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:42935600-42943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:42936000-42943400	Weak transcription	Right Atrium	heart
13	chr12:42937800-42943800	Strong transcription	HUVEC	blood vessel
14	chr12:42938400-42946800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:42938600-42943800	Strong transcription	Osteobl	bone
16	chr12:42939800-42944400	Strong transcription	HSMM	muscle
17	chr12:42939800-42971000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:42940200-42943200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:42940800-42943600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:42941000-42942800	Strong transcription	NH-A	brain
21	chr12:42941000-42943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:42941200-42943800	Strong transcription	HSMMtube	muscle
23	chr12:42941200-42963400	Weak transcription	NHEK	skin
24	chr12:42941400-42943200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:42941400-42946200	Weak transcription	Adipose Nuclei	Adipose
26	chr12:42941400-42947400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:42941400-42952200	Weak transcription	Ovary	ovary
28	chr12:42941800-42944000	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:42942000-42944000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:42942200-42942600	Strong transcription	Fetal Lung	lung

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