Variant report

Variant	rs28592598
Chromosome Location	chr14:104411347-104411348
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104383824..104385771-chr14:104411318..104413343,2	K562	blood:
2	chr14:104403769..104405537-chr14:104408994..104411713,3	MCF-7	breast:
3	chr14:104408709..104411499-chr14:104426104..104427639,2	MCF-7	breast:
4	chr14:104400120..104402233-chr14:104410455..104413050,2	MCF-7	breast:
5	chr14:104383824..104386788-chr14:104411318..104413343,3	K562	blood:
6	chr14:104403831..104408776-chr14:104408810..104412826,6	K562	blood:

Variant related genes	Relation type
ENSG00000156414	Chromatin interaction
ENSG00000227729	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10132127	0.84[EUR][1000 genomes]
rs10132153	0.84[EUR][1000 genomes]
rs10135296	0.81[EUR][1000 genomes]
rs10139271	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10139483	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10143030	0.81[EUR][1000 genomes]
rs10143389	0.81[EUR][1000 genomes]
rs10147923	0.85[EUR][1000 genomes]
rs10149351	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10149630	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10149734	0.87[EUR][1000 genomes]
rs10467890	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11160773	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11160778	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11160783	0.80[ASN][1000 genomes]
rs11160784	0.84[ASN][1000 genomes]
rs11623042	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11625083	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11626187	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11626960	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11627072	0.84[ASN][1000 genomes]
rs11628540	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11628592	0.84[ASN][1000 genomes]
rs11628717	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11847797	0.81[EUR][1000 genomes]
rs11851097	0.85[EUR][1000 genomes]
rs12100528	0.81[EUR][1000 genomes]
rs12147460	0.84[EUR][1000 genomes]
rs12147828	0.81[EUR][1000 genomes]
rs12589388	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12589390	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12885482	0.84[ASN][1000 genomes]
rs12886010	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12890969	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895187	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12896676	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1309320	0.86[EUR][1000 genomes]
rs1744263	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1744266	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1770997	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1770998	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1771002	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1957517	0.84[EUR][1000 genomes]
rs1957518	0.81[EUR][1000 genomes]
rs2146241	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2208431	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2263014	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273842	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28505294	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28574832	0.83[EUR][1000 genomes]
rs2887389	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4900604	0.83[EUR][1000 genomes]
rs4900605	0.83[EUR][1000 genomes]
rs4900607	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4906391	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4906392	0.87[EUR][1000 genomes]
rs4906395	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906396	0.81[EUR][1000 genomes]
rs4906401	0.81[EUR][1000 genomes]
rs4906402	0.81[EUR][1000 genomes]
rs58289480	0.81[EUR][1000 genomes]
rs61248168	0.81[EUR][1000 genomes]
rs61319604	0.81[EUR][1000 genomes]
rs6576017	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7143739	0.89[EUR][1000 genomes]
rs7144813	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7145703	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7147107	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7148877	0.82[EUR][1000 genomes]
rs7149412	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7150461	0.82[ASN][1000 genomes]
rs7152856	0.87[EUR][1000 genomes]
rs7154082	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156122	0.89[EUR][1000 genomes]
rs7160557	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7161468	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72712884	0.84[EUR][1000 genomes]
rs72712889	0.87[EUR][1000 genomes]
rs72712900	0.81[EUR][1000 genomes]
rs72714904	0.81[EUR][1000 genomes]
rs74089113	0.90[EUR][1000 genomes]
rs8003075	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008510	0.84[EUR][1000 genomes]
rs8009349	0.84[EUR][1000 genomes]
rs8014546	0.81[EUR][1000 genomes]
rs8022833	0.84[EUR][1000 genomes]
rs9324066	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9324068	0.80[EUR][1000 genomes]
rs9671921	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	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
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv902324	chr14:104399640-104464809	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28592598	C14orf2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104409000-104411600	Enhancers	Fetal Heart	heart
2	chr14:104409000-104414000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr14:104410600-104411400	Enhancers	Left Ventricle	heart

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