Variant report

Variant	rs8019947
Chromosome Location	chr14:104498637-104498638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104497825..104500668-chr3:70209733..70212637,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10133836	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139481	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150865	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11160776	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11160781	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1187452	1.00[AMR][1000 genomes]
rs1187453	1.00[AMR][1000 genomes]
rs1771000	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1771004	0.83[AMR][1000 genomes]
rs1885596	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951583	1.00[AMR][1000 genomes]
rs2146240	1.00[AMR][1000 genomes]
rs2368985	0.83[AMR][1000 genomes]
rs2368986	0.83[AMR][1000 genomes]
rs2368994	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2368997	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2887388	1.00[AMR][1000 genomes]
rs4906404	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4906405	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6576016	0.83[AMR][1000 genomes]
rs7145829	1.00[AMR][1000 genomes]
rs7146280	1.00[AMR][1000 genomes]
rs7149117	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7161153	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009855	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8021210	0.96[AFR][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	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
4	nsv1049690	chr14:104411621-104575838	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv542208	chr14:104411621-104575838	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv526680	chr14:104427043-104568472	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1047990	chr14:104460605-104556463	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv542209	chr14:104497447-104540729	Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8019947	C14orf2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104491800-104499200	Weak transcription	Fetal Brain Male	brain
2	chr14:104492200-104516000	Weak transcription	Spleen	Spleen
3	chr14:104493000-104504000	Weak transcription	Gastric	stomach
4	chr14:104494600-104499000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr14:104496400-104520800	Weak transcription	Primary monocytes fromperipheralblood	blood

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