Variant report

Variant	rs11683743
Chromosome Location	chr2:50571243-50571244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10181684	1.00[EUR][1000 genomes]
rs12470453	0.81[EUR][1000 genomes]
rs17531335	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1814972	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35861835	0.90[EUR][1000 genomes]
rs7587736	0.90[EUR][1000 genomes]
rs9678781	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1000087	chr2:50501395-50581229	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv948548	chr2:50569117-50695100	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50564200-50571400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:50570200-50572800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr2:50570600-50571800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:50570600-50573400	Active TSS	Fetal Brain Female	brain
5	chr2:50570600-50575400	Active TSS	Brain Angular Gyrus	brain
6	chr2:50570800-50572600	Flanking Active TSS	Fetal Brain Male	brain
7	chr2:50570800-50573200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:50571000-50571400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:50571200-50571600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:50571200-50571600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:50571200-50571800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:50571200-50571800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr2:50571200-50572200	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr2:50571200-50574400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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