Variant report

Variant	rs12234110
Chromosome Location	chr5:120184221-120184222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:120182804..120185937-chr5:120188813..120191326,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10054920	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10069991	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10070060	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10076144	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10077130	0.89[ASN][1000 genomes]
rs10077777	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10085104	0.95[ASN][1000 genomes]
rs10455012	0.82[ASN][1000 genomes]
rs10455033	0.84[ASN][1000 genomes]
rs11241573	0.91[ASN][1000 genomes]
rs11953258	0.90[ASN][1000 genomes]
rs11956343	0.90[ASN][1000 genomes]
rs28446449	0.90[ASN][1000 genomes]
rs3213800	0.84[ASN][1000 genomes]
rs4131762	0.86[ASN][1000 genomes]
rs4307113	0.90[ASN][1000 genomes]
rs4476749	0.90[ASN][1000 genomes]
rs4485954	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895169	0.95[ASN][1000 genomes]
rs4895170	0.95[ASN][1000 genomes]
rs4895288	0.84[ASN][1000 genomes]
rs58342182	0.90[ASN][1000 genomes]
rs60221676	0.86[ASN][1000 genomes]
rs72785854	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72785863	0.84[ASN][1000 genomes]
rs72785865	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72785869	0.86[ASN][1000 genomes]
rs73265382	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv599603	chr5:119953529-120317035	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv949415	chr5:119957645-120459183	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030613	chr5:119980213-120301205	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1029773	chr5:120018166-120213999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1031403	chr5:120044993-120222128	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1033992	chr5:120045247-120232155	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1034523	chr5:120046649-120213999	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv537886	chr5:120046649-120213999	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1032430	chr5:120046652-120222128	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv599604	chr5:120046798-120223491	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1025535	chr5:120050070-120222128	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3369974	chr5:120051746-120319085	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv882789	chr5:120056258-120190213	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv830466	chr5:120086428-120259016	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv882791	chr5:120100225-120293328	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv524748	chr5:120104848-120219340	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1015280	chr5:120163808-120306848	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	nsv1025157	chr5:120175806-120307539	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
20	nsv882792	chr5:120183146-120296787	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120179400-120186800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:120179800-120186600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:120180000-120184400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:120180000-120186800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:120180200-120184400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:120180200-120184400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:120180200-120184400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:120184000-120185000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr5:120184200-120184400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr5:120184200-120184600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:120184200-120184800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:120184200-120184800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:120184200-120185400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr5:120184200-120185600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr5:120184200-120185600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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