Variant report

Variant	rs10506211
Chromosome Location	chr12:43073062-43073063
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:43072975-43073617	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000240759	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11181528	1.00[LWK][hapmap]
rs73129689	1.00[AFR][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	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43062000-43077800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:43064400-43073200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:43064400-43073400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:43068200-43073400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:43071600-43074200	Enhancers	Fetal Heart	heart
6	chr12:43071800-43073600	Enhancers	Fetal Lung	lung
7	chr12:43072000-43074600	Enhancers	Fetal Muscle Leg	muscle
8	chr12:43072200-43074000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:43072200-43074000	Enhancers	Left Ventricle	heart
10	chr12:43072200-43074000	Enhancers	Right Ventricle	heart
11	chr12:43072200-43074000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:43072200-43074400	Enhancers	Fetal Stomach	stomach
13	chr12:43072200-43074600	Enhancers	HSMMtube	muscle
14	chr12:43072400-43073400	Weak transcription	Fetal Kidney	kidney
15	chr12:43072400-43073400	Enhancers	Psoas Muscle	Psoas
16	chr12:43072600-43080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:43072800-43073200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:43072800-43073800	Enhancers	Rectal Smooth Muscle	rectum
19	chr12:43073000-43073200	Flanking Active TSS	HSMM	muscle
20	chr12:43073000-43073200	Flanking Active TSS	NH-A	brain
21	chr12:43073000-43073600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:43073000-43073800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:43073000-43073800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:43073000-43074000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:43073000-43074000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:43073000-43074000	Enhancers	Placenta Amnion	Placenta Amnion

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