Variant report

Variant	rs6539693
Chromosome Location	chr12:83216863-83216864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10047600	1.00[ASN][1000 genomes]
rs10047619	1.00[ASN][1000 genomes]
rs10082955	1.00[ASN][1000 genomes]
rs10083084	1.00[ASN][1000 genomes]
rs10506882	1.00[ASN][1000 genomes]
rs10778911	1.00[ASN][1000 genomes]
rs10778912	1.00[ASN][1000 genomes]
rs10778913	1.00[ASN][1000 genomes]
rs10862502	1.00[ASN][1000 genomes]
rs10862503	1.00[ASN][1000 genomes]
rs10862504	1.00[ASN][1000 genomes]
rs10862505	1.00[ASN][1000 genomes]
rs10862506	1.00[ASN][1000 genomes]
rs10862507	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10862511	0.89[ASN][1000 genomes]
rs10862512	1.00[ASN][1000 genomes]
rs10862513	1.00[ASN][1000 genomes]
rs11115389	1.00[ASN][1000 genomes]
rs11115390	1.00[ASN][1000 genomes]
rs11115391	1.00[ASN][1000 genomes]
rs11115392	1.00[ASN][1000 genomes]
rs11115393	1.00[ASN][1000 genomes]
rs11115396	1.00[ASN][1000 genomes]
rs11115397	1.00[ASN][1000 genomes]
rs11115398	1.00[ASN][1000 genomes]
rs11115400	1.00[ASN][1000 genomes]
rs11115403	1.00[ASN][1000 genomes]
rs11115404	1.00[ASN][1000 genomes]
rs11115405	1.00[ASN][1000 genomes]
rs11115406	1.00[ASN][1000 genomes]
rs11115407	1.00[ASN][1000 genomes]
rs11115408	1.00[ASN][1000 genomes]
rs11115409	1.00[ASN][1000 genomes]
rs11115411	1.00[ASN][1000 genomes]
rs11115412	1.00[ASN][1000 genomes]
rs11115413	1.00[ASN][1000 genomes]
rs11115414	1.00[ASN][1000 genomes]
rs11115416	1.00[ASN][1000 genomes]
rs11115418	1.00[ASN][1000 genomes]
rs11115430	1.00[ASN][1000 genomes]
rs11115431	1.00[ASN][1000 genomes]
rs11115433	1.00[ASN][1000 genomes]
rs11115434	1.00[ASN][1000 genomes]
rs11115435	1.00[ASN][1000 genomes]
rs11115437	1.00[ASN][1000 genomes]
rs11115445	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115446	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115447	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115448	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115449	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115450	1.00[CEU][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115451	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609468	1.00[ASN][1000 genomes]
rs11830781	1.00[ASN][1000 genomes]
rs11835207	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146872	1.00[ASN][1000 genomes]
rs12296710	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304482	1.00[ASN][1000 genomes]
rs12305861	1.00[ASN][1000 genomes]
rs12305927	1.00[ASN][1000 genomes]
rs12307933	1.00[ASN][1000 genomes]
rs12308668	1.00[ASN][1000 genomes]
rs12313857	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317459	1.00[ASN][1000 genomes]
rs12320924	1.00[ASN][1000 genomes]
rs12369186	1.00[ASN][1000 genomes]
rs12369671	1.00[ASN][1000 genomes]
rs12370453	1.00[ASN][1000 genomes]
rs12370719	1.00[ASN][1000 genomes]
rs1858059	1.00[ASN][1000 genomes]
rs58129519	1.00[ASN][1000 genomes]
rs6539689	1.00[ASN][1000 genomes]
rs7132287	1.00[ASN][1000 genomes]
rs7133916	1.00[ASN][1000 genomes]
rs7299047	0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7299341	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303906	1.00[ASN][1000 genomes]
rs7308736	1.00[ASN][1000 genomes]
rs7310087	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7312288	1.00[ASN][1000 genomes]
rs7315531	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315880	0.90[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979743	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv2755991	chr12:83105631-83248605	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2754173	chr12:83125000-83245838	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv899351	chr12:83166956-83220039	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv2756046	chr12:83166956-83245838	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv2755875	chr12:83166956-83248605	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv430520	chr12:83166956-83271602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv2752707	chr12:83168113-83245838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv2753376	chr12:83168113-83245838	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	esv2754178	chr12:83168113-83245838	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	nsv559550	chr12:83168616-83220004	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	nsv559551	chr12:83168616-83220039	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
20	nsv559552	chr12:83168616-83225174	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	nsv1054974	chr12:83169263-83219362	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83193600-83219000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:83194200-83219600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:83196400-83250800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:83206600-83250000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:83206600-83255200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:83210400-83222600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:83210400-83223600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:83211800-83225600	Weak transcription	Fetal Kidney	kidney
9	chr12:83211800-83229000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:83212400-83257000	Weak transcription	Gastric	stomach
11	chr12:83212600-83218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:83212600-83219200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:83212600-83229000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:83213000-83218600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:83213000-83219000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:83213800-83218800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:83214200-83250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:83215000-83220000	Weak transcription	Fetal Lung	lung
19	chr12:83215600-83221600	Weak transcription	Fetal Stomach	stomach
20	chr12:83216000-83219000	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:83216400-83217200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:83216800-83220200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:83216800-83240000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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