Variant report

Variant	rs12039316
Chromosome Location	chr1:155073221-155073222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155071480..155073759-chr1:155144044..155145660,2	MCF-7	breast:
2	chr1:155065499..155067791-chr1:155070241..155073223,2	MCF-7	breast:
3	chr1:155072871..155075853-chr1:155078675..155081266,2	K562	blood:

Variant related genes	Relation type
ENSG00000163463	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10796938	1.00[ASN][1000 genomes]
rs10796939	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10908454	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908455	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908456	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264311	0.82[AMR][1000 genomes]
rs11264312	1.00[ASN][1000 genomes]
rs11264313	0.97[ASN][1000 genomes]
rs11264314	1.00[ASN][1000 genomes]
rs11264319	1.00[ASN][1000 genomes]
rs11264321	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264322	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264327	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264328	0.93[ASN][1000 genomes]
rs11264329	0.93[ASN][1000 genomes]
rs12026113	0.97[ASN][1000 genomes]
rs12040970	0.93[ASN][1000 genomes]
rs12145362	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1462855	1.00[ASN][1000 genomes]
rs1870939	1.00[ASN][1000 genomes]
rs2306124	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3766918	1.00[ASN][1000 genomes]
rs4303067	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4361977	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625273	1.00[ASN][1000 genomes]
rs4845408	0.97[ASN][1000 genomes]
rs56112907	1.00[ASN][1000 genomes]
rs6427158	1.00[ASN][1000 genomes]
rs6665822	0.93[ASN][1000 genomes]
rs6693477	1.00[ASN][1000 genomes]
rs7364869	1.00[ASN][1000 genomes]
rs7365544	1.00[ASN][1000 genomes]
rs7366138	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7366355	1.00[ASN][1000 genomes]
rs7367207	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7367758	0.97[ASN][1000 genomes]
rs7367897	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7368345	1.00[ASN][1000 genomes]
rs7534162	1.00[ASN][1000 genomes]
rs7548955	1.00[ASN][1000 genomes]
rs9330263	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
3	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
4	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155067200-155074400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:155067200-155075000	Weak transcription	K562	blood
3	chr1:155067400-155074400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:155068200-155074400	Weak transcription	Liver	Liver

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