Variant report

Variant	rs41344546
Chromosome Location	chr12:117799260-117799261
allele	A/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]
rs11068456	0.93[EUR][1000 genomes]
rs59756500	0.83[AFR][1000 genomes]
rs73409551	0.87[AFR][1000 genomes]
rs73411417	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	nsv455724	chr12:117786105-117845806	Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv560385	chr12:117786105-117845806	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3433275	chr12:117796919-117800317	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117796400-117800400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:117797000-117799600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:117797000-117799600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:117797200-117799800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr12:117797200-117800000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:117797200-117801400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr12:117797400-117799600	Active TSS	Brain Anterior Caudate	brain
8	chr12:117797600-117799800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:117797800-117799400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:117797800-117799400	Active TSS	NHEK	skin
11	chr12:117797800-117799600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:117797800-117799600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:117798000-117799400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:117798000-117799400	Bivalent/Poised TSS	Esophagus	oesophagus
15	chr12:117798000-117799600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:117798000-117800000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:117798200-117799400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr12:117798200-117799400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:117798200-117799400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:117798200-117799400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
21	chr12:117798200-117799400	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr12:117798200-117799600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr12:117798200-117799600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:117798400-117799400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:117798400-117799400	Active TSS	Psoas Muscle	Psoas
26	chr12:117798400-117799600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr12:117798600-117799400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:117798600-117799800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:117799000-117799400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:117799000-117799400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr12:117799000-117799400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:117799000-117799400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr12:117799200-117799400	Bivalent Enhancer	Right Ventricle	heart
34	chr12:117799200-117799400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr12:117799200-117799600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell

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