Variant report

Variant	rs61326615
Chromosome Location	chr14:45343116-45343117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10483549	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11847039	0.91[ASN][1000 genomes]
rs11847113	0.91[ASN][1000 genomes]
rs11851357	0.91[ASN][1000 genomes]
rs1593278	0.91[ASN][1000 genomes]
rs1593279	0.91[ASN][1000 genomes]
rs17092465	0.84[EUR][1000 genomes]
rs17092468	0.91[ASN][1000 genomes]
rs17115611	0.82[EUR][1000 genomes]
rs17115612	0.84[EUR][1000 genomes]
rs17115619	0.84[EUR][1000 genomes]
rs17115633	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17115639	0.91[ASN][1000 genomes]
rs17115642	0.88[ASN][1000 genomes]
rs17115646	0.91[ASN][1000 genomes]
rs17115648	0.91[ASN][1000 genomes]
rs17115651	0.91[ASN][1000 genomes]
rs17115652	0.91[ASN][1000 genomes]
rs17115657	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17115667	0.85[ASN][1000 genomes]
rs2295158	0.89[EUR][1000 genomes]
rs2295160	0.89[EUR][1000 genomes]
rs28419436	0.85[ASN][1000 genomes]
rs28432035	0.88[ASN][1000 genomes]
rs58338525	0.91[ASN][1000 genomes]
rs58671853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61332203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161626	0.96[ASN][1000 genomes]
rs722706	0.91[ASN][1000 genomes]
rs72474137	0.86[EUR][1000 genomes]
rs72671096	0.80[ASN][1000 genomes]
rs73345279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345288	0.93[AFR][1000 genomes]
rs7492763	0.85[ASN][1000 genomes]
rs8003020	0.91[ASN][1000 genomes]
rs8009677	0.91[ASN][1000 genomes]
rs8016855	0.96[ASN][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	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1039820	chr14:45298012-45361409	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61326615	RP11-398E10.1	cis	lung	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45342600-45343200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr14:45342600-45343200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:45342600-45343200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr14:45342600-45343600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:45342800-45343200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr14:45342800-45343200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr14:45342800-45343200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:45342800-45343200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:45342800-45343200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr14:45342800-45343200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:45342800-45343200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:45342800-45343400	Bivalent/Poised TSS	A549	lung
13	chr14:45343000-45343200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr14:45343000-45343200	Flanking Active TSS	HepG2	liver
15	chr14:45343000-45343400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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