Variant report

Variant	rs12253547
Chromosome Location	chr10:23484696-23484697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11013241	1.00[EUR][1000 genomes]
rs11013243	1.00[EUR][1000 genomes]
rs11013286	1.00[EUR][1000 genomes]
rs11013309	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11013311	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11013312	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11013313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11013314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11013315	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11013345	1.00[EUR][1000 genomes]
rs11013346	1.00[EUR][1000 genomes]
rs11013411	1.00[EUR][1000 genomes]
rs11013414	1.00[EUR][1000 genomes]
rs11013431	1.00[EUR][1000 genomes]
rs11815995	1.00[EUR][1000 genomes]
rs12240604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240815	1.00[EUR][1000 genomes]
rs12242101	1.00[EUR][1000 genomes]
rs12244149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12244692	1.00[EUR][1000 genomes]
rs12245976	1.00[AMR][1000 genomes]
rs12246196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12246812	1.00[EUR][1000 genomes]
rs12248042	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12251091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12252677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12255738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12257110	1.00[EUR][1000 genomes]
rs12259381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12263261	1.00[EUR][1000 genomes]
rs12264254	1.00[EUR][1000 genomes]
rs12264628	1.00[EUR][1000 genomes]
rs12265525	1.00[EUR][1000 genomes]
rs12266688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12267589	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12269034	1.00[EUR][1000 genomes]
rs12269406	1.00[EUR][1000 genomes]
rs12414753	1.00[EUR][1000 genomes]
rs12415049	1.00[EUR][1000 genomes]
rs1555803	1.00[EUR][1000 genomes]
rs1555804	1.00[EUR][1000 genomes]
rs16923022	1.00[EUR][1000 genomes]
rs16923107	1.00[EUR][1000 genomes]
rs28787441	1.00[EUR][1000 genomes]
rs35010365	1.00[EUR][1000 genomes]
rs4130996	1.00[EUR][1000 genomes]
rs57028408	1.00[EUR][1000 genomes]
rs58872155	1.00[EUR][1000 genomes]
rs59059236	1.00[EUR][1000 genomes]
rs60119752	1.00[EUR][1000 genomes]
rs60278719	1.00[EUR][1000 genomes]
rs61136507	1.00[EUR][1000 genomes]
rs61416838	1.00[EUR][1000 genomes]
rs7067788	1.00[EUR][1000 genomes]
rs7358042	1.00[EUR][1000 genomes]
rs74121763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74121767	1.00[EUR][1000 genomes]
rs74121787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124511	1.00[EUR][1000 genomes]
rs74124519	1.00[EUR][1000 genomes]
rs74124521	1.00[EUR][1000 genomes]
rs74124522	1.00[EUR][1000 genomes]
rs74124523	1.00[EUR][1000 genomes]
rs74125106	1.00[EUR][1000 genomes]
rs7910382	1.00[EUR][1000 genomes]
rs7916862	1.00[EUR][1000 genomes]
rs9943348	1.00[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	nsv825301	chr10:23440604-23505846	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv831810	chr10:23445647-23605270	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv825302	chr10:23457022-23497329	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2754706	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2756096	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv430137	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv466834	chr10:23482635-23623523	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv550213	chr10:23482635-23623523	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23483600-23484800	Bivalent Enhancer	Brain Substantia Nigra	brain
2	chr10:23483600-23485200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
3	chr10:23484000-23484800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
4	chr10:23484000-23484800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
5	chr10:23484200-23485200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:23484200-23486200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:23484200-23486600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:23484400-23484800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr10:23484400-23484800	Bivalent Enhancer	Fetal Brain Female	brain
10	chr10:23484400-23485000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
11	chr10:23484400-23485000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:23484400-23486800	Enhancers	Pancreas	Pancrea

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