Variant report

Variant	rs4397916
Chromosome Location	chr12:40179284-40179285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10219652	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10444570	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10735885	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10747877	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747878	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783994	0.80[AMR][1000 genomes]
rs10784034	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10784051	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10784059	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11173394	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11173401	0.88[ASN][1000 genomes]
rs11173411	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11173423	0.89[ASN][1000 genomes]
rs11173424	0.88[ASN][1000 genomes]
rs11173428	0.89[ASN][1000 genomes]
rs11173433	0.89[ASN][1000 genomes]
rs11173434	0.89[ASN][1000 genomes]
rs11173440	0.89[ASN][1000 genomes]
rs11173446	0.89[ASN][1000 genomes]
rs11173459	0.89[ASN][1000 genomes]
rs11173494	0.91[ASN][1000 genomes]
rs11173507	0.92[ASN][1000 genomes]
rs11173541	0.90[ASN][1000 genomes]
rs11173550	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173551	0.91[ASN][1000 genomes]
rs11173553	0.89[ASN][1000 genomes]
rs11532458	0.85[ASN][1000 genomes]
rs12229203	0.89[ASN][1000 genomes]
rs12229418	0.91[ASN][1000 genomes]
rs12230687	0.90[ASN][1000 genomes]
rs12823801	0.82[AMR][1000 genomes]
rs4238072	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4238073	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4255599	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4255600	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4312128	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4322460	0.81[ASN][1000 genomes]
rs4322461	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4381428	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4388963	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4391875	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4405390	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4405391	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4417381	0.82[AMR][1000 genomes]
rs4556618	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767949	0.82[AMR][1000 genomes]
rs58755301	0.80[AMR][1000 genomes]
rs61931185	0.91[ASN][1000 genomes]
rs61931208	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61931211	0.87[ASN][1000 genomes]
rs61933157	0.88[ASN][1000 genomes]
rs61933158	0.85[ASN][1000 genomes]
rs7298453	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7301886	0.89[ASN][1000 genomes]
rs7302849	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7308955	0.80[AMR][1000 genomes]
rs7952735	0.82[AMR][1000 genomes]
rs7964129	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7969282	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	nsv427907	chr12:40122713-40199621	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv428280	chr12:40122713-40199621	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3439863	chr12:40176294-40180179	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3376804	chr12:40176306-40180174	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40158200-40199000	Weak transcription	Left Ventricle	heart
2	chr12:40161600-40198800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:40174400-40186200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:40175400-40179800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:40176200-40189400	Weak transcription	Colon Smooth Muscle	Colon

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