Variant report

Variant	rs12823801
Chromosome Location	chr12:40108169-40108170
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10047563	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10219652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10444570	0.94[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10735885	1.00[CEU][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10747825	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10747853	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10747877	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10747878	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10783959	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs10783969	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10783993	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783994	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10783998	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10784001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10784016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784019	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10784034	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10784051	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10784059	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10877305	0.82[ASN][1000 genomes]
rs10877335	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877337	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10877369	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10877410	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11173257	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173259	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11173260	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173262	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173376	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11173411	0.89[EUR][1000 genomes]
rs11173423	0.83[AMR][1000 genomes]
rs11173424	0.83[AMR][1000 genomes]
rs11173428	0.83[AMR][1000 genomes]
rs11173433	0.83[AMR][1000 genomes]
rs11173434	0.83[AMR][1000 genomes]
rs11173440	0.88[JPT][hapmap];0.83[AMR][1000 genomes]
rs11173446	0.89[JPT][hapmap];0.83[AMR][1000 genomes]
rs11173459	0.89[JPT][hapmap];0.83[AMR][1000 genomes]
rs11173494	0.89[JPT][hapmap];0.81[AMR][1000 genomes]
rs11173507	0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs11173541	0.84[JPT][hapmap];0.83[AMR][1000 genomes]
rs11173550	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11173551	0.81[AMR][1000 genomes]
rs11173553	0.81[AMR][1000 genomes]
rs11532458	0.81[AMR][1000 genomes]
rs12229203	0.89[JPT][hapmap];0.83[AMR][1000 genomes]
rs12229301	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12229418	0.89[JPT][hapmap];0.83[AMR][1000 genomes]
rs12230687	0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs12825223	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4077987	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4129365	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4238072	0.94[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4238073	0.94[CEU][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4254134	0.83[CEU][hapmap]
rs4255599	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4255600	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4312128	0.94[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4322460	0.83[AMR][1000 genomes]
rs4322461	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4337105	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4357762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4381428	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4388963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4391875	0.84[AMR][1000 genomes]
rs4397916	0.82[AMR][1000 genomes]
rs4405390	0.94[CEU][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4405391	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4411336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4417381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4417382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4495951	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4556618	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4594067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4767949	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768170	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57244766	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58418587	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58755301	0.96[ASN][1000 genomes]
rs61477638	0.92[ASN][1000 genomes]
rs61931185	0.83[AMR][1000 genomes]
rs61931208	0.84[AMR][1000 genomes]
rs61933102	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61933154	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61933157	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61933158	0.81[AMR][1000 genomes]
rs6421191	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6421195	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6421196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6421197	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6421198	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6581263	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581265	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581266	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581270	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581272	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581294	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6581357	0.83[CEU][hapmap]
rs7136929	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7296585	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7298453	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7301886	0.83[AMR][1000 genomes]
rs7302849	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7308955	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7485345	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7486196	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7486621	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7486631	0.84[CHB][hapmap]
rs7487812	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7487999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7952735	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7956577	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7959905	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7961070	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7961346	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7964129	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7969282	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7973312	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7980636	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9325166	0.94[CHB][hapmap];0.87[JPT][hapmap]

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:1 , 50 per page) page: 1

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

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