Variant report

Variant	rs4243546
Chromosome Location	chr14:47860590-47860591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10136895	0.97[ASN][1000 genomes]
rs10141027	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141600	1.00[ASN][1000 genomes]
rs10143731	0.97[ASN][1000 genomes]
rs10147494	0.96[ASN][1000 genomes]
rs10151311	0.98[ASN][1000 genomes]
rs10467788	1.00[ASN][1000 genomes]
rs11157555	0.97[ASN][1000 genomes]
rs11157557	1.00[ASN][1000 genomes]
rs12147667	1.00[ASN][1000 genomes]
rs12590461	0.97[ASN][1000 genomes]
rs12883727	0.94[ASN][1000 genomes]
rs12894830	0.94[ASN][1000 genomes]
rs17118508	0.98[ASN][1000 genomes]
rs17118530	0.98[ASN][1000 genomes]
rs2416058	0.97[ASN][1000 genomes]
rs28366604	0.88[ASN][1000 genomes]
rs35497858	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4243547	0.82[AFR][1000 genomes]
rs4900754	0.99[ASN][1000 genomes]
rs57645873	0.97[ASN][1000 genomes]
rs61173432	0.98[ASN][1000 genomes]
rs61663660	0.95[ASN][1000 genomes]
rs6572416	0.98[ASN][1000 genomes]
rs7142187	1.00[ASN][1000 genomes]
rs7143762	1.00[ASN][1000 genomes]
rs7146502	0.94[ASN][1000 genomes]
rs7147159	0.96[ASN][1000 genomes]
rs7149079	1.00[ASN][1000 genomes]
rs7152403	1.00[ASN][1000 genomes]
rs7159485	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7159841	1.00[ASN][1000 genomes]
rs7159880	1.00[ASN][1000 genomes]
rs7160330	0.95[ASN][1000 genomes]
rs74047416	0.96[ASN][1000 genomes]
rs7493803	0.96[ASN][1000 genomes]
rs8009848	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8015962	0.97[ASN][1000 genomes]
rs8021251	1.00[ASN][1000 genomes]
rs9323133	0.96[ASN][1000 genomes]
rs9652333	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1048316	chr14:47297113-47885723	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv530661	chr14:47754197-47937396	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv498118	chr14:47754197-48274409	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1037655	chr14:47827437-47879207	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1053559	chr14:47827437-47880960	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47858000-47861000	Weak transcription	Fetal Brain Male	brain
2	chr14:47858800-47860600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:47858800-47860600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:47858800-47860600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:47859200-47860800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:47859200-47861400	Enhancers	Ovary	ovary
7	chr14:47859800-47861000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:47859800-47861000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:47860000-47860600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:47860200-47860600	Active TSS	Brain Anterior Caudate	brain
11	chr14:47860200-47860600	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr14:47860200-47860800	Active TSS	Brain Angular Gyrus	brain
13	chr14:47860200-47860800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr14:47860400-47860800	Active TSS	Brain Hippocampus Middle	brain
15	chr14:47860400-47860800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:47860400-47860800	Active TSS	Brain Substantia Nigra	brain
17	chr14:47860400-47862000	Enhancers	Fetal Muscle Leg	muscle
18	chr14:47860400-47862200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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