Variant report

Variant	rs12165715
Chromosome Location	chr22:29005595-29005596
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	chr22:29004756..29007074-chr22:29174850..29177158,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10084639	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10222318	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10483150	1.00[CHB][hapmap]
rs10483151	0.83[CEU][hapmap]
rs12165893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12165913	0.86[AFR][1000 genomes]
rs12166245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12166363	0.86[AMR][1000 genomes]
rs12166475	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12167122	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12167434	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12167532	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12167614	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12168031	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12168765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12169071	0.99[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12169120	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12169232	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12169262	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12169460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12169595	0.81[AMR][1000 genomes]
rs12169880	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12171099	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13057011	1.00[CHB][hapmap]
rs134506	0.81[EUR][1000 genomes]
rs134514	0.85[AMR][1000 genomes]
rs134524	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs134547	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1474961	0.83[CEU][hapmap]
rs16986398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16986509	0.91[CEU][hapmap];0.86[AMR][1000 genomes]
rs17413461	0.83[CEU][hapmap]
rs17507066	0.83[CEU][hapmap]
rs2013784	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2144922	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2881496	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28818228	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55738739	0.81[AMR][1000 genomes]
rs57871917	0.81[AMR][1000 genomes]
rs58049055	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58542867	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60042154	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6005807	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs6005809	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60065194	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60248971	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60693420	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6519753	0.81[AMR][1000 genomes]
rs6519758	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7286816	0.81[AMR][1000 genomes]
rs7288792	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7289534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7289625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7291268	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs7293232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73430118	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73430136	0.86[AMR][1000 genomes]
rs73430155	0.86[AMR][1000 genomes]
rs73430168	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73430179	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73430186	0.86[AMR][1000 genomes]
rs73430189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73432205	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73439811	0.81[AMR][1000 genomes]
rs738627	0.81[AMR][1000 genomes]
rs8135424	0.91[AFR][1000 genomes]
rs8136767	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8136905	0.91[AFR][1000 genomes]
rs8136995	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8137200	0.86[AMR][1000 genomes]
rs8137808	0.81[AMR][1000 genomes]
rs8142681	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9306457	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs9608696	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs9620797	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs9620799	0.81[AMR][1000 genomes]
rs9620803	0.81[AMR][1000 genomes]
rs9620804	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs9620808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9620809	0.91[AFR][1000 genomes]
rs9620810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9620811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9620826	1.00[CHB][hapmap]
rs9620828	1.00[CHB][hapmap]
rs9625475	0.91[CEU][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs9625477	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs9625478	0.83[CEU][hapmap]
rs9625481	0.81[AMR][1000 genomes]
rs9625484	0.81[AMR][1000 genomes]
rs9625498	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625509	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625510	0.86[AMR][1000 genomes]
rs9625512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625514	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625516	0.91[AFR][1000 genomes]
rs9625518	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9625520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625522	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625534	0.83[CEU][hapmap]
rs9625554	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28991800-29007600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:29001600-29006000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:29002000-29006000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:29003000-29025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29004000-29005800	Enhancers	K562	blood
6	chr22:29004000-29006000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:29004400-29006000	Enhancers	Fetal Lung	lung
8	chr22:29004400-29041600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:29004600-29005800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:29004600-29006000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr22:29004800-29005800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:29004800-29005800	Weak transcription	Fetal Stomach	stomach
13	chr22:29004800-29005800	Enhancers	Stomach Smooth Muscle	stomach
14	chr22:29004800-29006200	Enhancers	Ovary	ovary
15	chr22:29004800-29014600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:29004800-29016600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:29004800-29026000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:29004800-29027400	Weak transcription	Aorta	Aorta
19	chr22:29004800-29036000	Weak transcription	Fetal Muscle Leg	muscle
20	chr22:29005400-29005600	Enhancers	Lung	lung
21	chr22:29005400-29006000	Enhancers	Right Ventricle	heart
22	chr22:29005400-29008600	Weak transcription	Right Atrium	heart

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