Variant report

Variant	rs11173259
Chromosome Location	chr12:40107705-40107706
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10219652	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10444570	0.87[EUR][1000 genomes]
rs10735885	0.87[EUR][1000 genomes]
rs10747877	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10747878	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10783994	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10784016	0.83[ASN][1000 genomes]
rs10784034	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784051	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10784059	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10877369	0.84[ASN][1000 genomes]
rs10877410	0.84[ASN][1000 genomes]
rs11173257	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11173260	0.87[ASN][1000 genomes]
rs11173262	0.87[ASN][1000 genomes]
rs11173376	0.83[ASN][1000 genomes]
rs11173411	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11173550	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12823801	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12825223	0.87[ASN][1000 genomes]
rs4238072	0.87[EUR][1000 genomes]
rs4238073	0.87[EUR][1000 genomes]
rs4255599	0.87[EUR][1000 genomes]
rs4255600	0.87[EUR][1000 genomes]
rs4312128	0.82[EUR][1000 genomes]
rs4322461	0.87[EUR][1000 genomes]
rs4381428	0.87[EUR][1000 genomes]
rs4388963	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4405390	0.91[EUR][1000 genomes]
rs4405391	0.89[EUR][1000 genomes]
rs4411336	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4417381	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4556618	0.87[EUR][1000 genomes]
rs4767949	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768170	0.84[ASN][1000 genomes]
rs57244766	0.84[ASN][1000 genomes]
rs58418587	0.84[ASN][1000 genomes]
rs58755301	0.84[ASN][1000 genomes]
rs61477638	0.80[ASN][1000 genomes]
rs61933154	0.84[ASN][1000 genomes]
rs6581294	0.84[ASN][1000 genomes]
rs7302849	0.87[EUR][1000 genomes]
rs7308955	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7952735	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7964129	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7969282	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv899015	chr12:39946354-40118249	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv899018	chr12:39949147-40111761	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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 miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv899022	chr12:40014427-40111761	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv899023	chr12:40046408-40111761	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
8	nsv899024	chr12:40046408-40188870	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1053603	chr12:40082673-40197609	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3393533	chr12:40104585-40109983	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv3325302	chr12:40104735-40109283	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	esv3420604	chr12:40104885-40108783	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40106400-40108000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr12:40107200-40108400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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