Variant report

Variant	rs12312958
Chromosome Location	chr12:42948127-42948128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10128834	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11181553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11181555	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11181556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11181560	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12228734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17091361	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2103410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55930021	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56898852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582403	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582405	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7308904	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7955255	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7965297	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[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

No data

Chromatin state (count:28 , 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	chr12:42929600-42950200	Weak transcription	Left Ventricle	heart
5	chr12:42939800-42971000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:42941200-42963400	Weak transcription	NHEK	skin
7	chr12:42941400-42952200	Weak transcription	Ovary	ovary
8	chr12:42942400-42950800	Weak transcription	Psoas Muscle	Psoas
9	chr12:42942600-42951200	Weak transcription	Fetal Lung	lung
10	chr12:42943600-42951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:42943600-42957800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:42943800-42950200	Weak transcription	Right Atrium	heart
13	chr12:42943800-42951600	Weak transcription	Osteobl	bone
14	chr12:42943800-42954400	Weak transcription	HSMMtube	muscle
15	chr12:42943800-42955600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:42943800-42958200	Weak transcription	NH-A	brain
17	chr12:42944000-42954800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:42944000-42955000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:42944000-42959800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:42944200-42958200	Weak transcription	Fetal Stomach	stomach
21	chr12:42944400-42954600	Weak transcription	HSMM	muscle
22	chr12:42945800-42963800	Weak transcription	Fetal Intestine Small	intestine
23	chr12:42946200-42948200	Strong transcription	HUVEC	blood vessel
24	chr12:42946800-42951400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:42946800-42975200	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:42947000-42958400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:42947800-42952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:42948000-42948400	Enhancers	Fetal Heart	heart

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