Variant report

Variant	rs55818009
Chromosome Location	chr14:47513816-47513817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10135488	0.94[ASN][1000 genomes]
rs1041171	0.89[ASN][1000 genomes]
rs1954230	0.94[ASN][1000 genomes]
rs1958105	0.89[ASN][1000 genomes]
rs2416019	0.94[ASN][1000 genomes]
rs6572401	0.94[ASN][1000 genomes]
rs6572404	0.89[ASN][1000 genomes]
rs72678480	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678482	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv542086	chr14:46905406-47662394	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv564754	chr14:47162140-47633066	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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
8	nsv901883	chr14:47386441-47535917	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv427940	chr14:47386766-47562967	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv901884	chr14:47396215-47532254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1053846	chr14:47465690-47636016	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv564765	chr14:47480250-47521489	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv901886	chr14:47481897-47535917	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv564766	chr14:47486636-47521489	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1052509	chr14:47497898-47622785	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47513000-47514200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:47513000-47514200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr14:47513000-47514600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:47513000-47514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:47513600-47514400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:47513600-47514600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:47513800-47514400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr14:47513800-47514400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:47513800-47514400	Enhancers	Fetal Brain Male	brain
10	chr14:47513800-47514400	Enhancers	Fetal Lung	lung

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