Variant report

Variant	rs1474961
Chromosome Location	chr22:29039427-29039428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10483151	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12165708	0.81[EUR][1000 genomes]
rs12165715	0.83[CEU][hapmap]
rs12165893	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs12166129	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12166245	0.83[CEU][hapmap]
rs12166363	0.98[EUR][1000 genomes]
rs12166475	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs12167667	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12168765	0.80[CEU][hapmap]
rs12169262	0.83[CEU][hapmap]
rs12169460	0.83[CEU][hapmap]
rs12169595	0.95[EUR][1000 genomes]
rs12169966	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16986509	0.91[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs17413461	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17507066	1.00[CEU][hapmap]
rs17508019	1.00[ASW][hapmap]
rs17514713	1.00[ASW][hapmap]
rs2013784	0.83[CEU][hapmap]
rs2144922	0.83[CEU][hapmap];0.88[MEX][hapmap]
rs55738739	0.91[EUR][1000 genomes]
rs59262169	0.92[EUR][1000 genomes]
rs5997391	0.86[MEX][hapmap]
rs60042154	0.91[EUR][1000 genomes]
rs6005807	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs6519753	0.92[EUR][1000 genomes]
rs7289534	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs7289625	0.83[CEU][hapmap]
rs7291268	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs7293232	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs73430123	0.92[EUR][1000 genomes]
rs73430136	0.95[EUR][1000 genomes]
rs73430155	0.95[EUR][1000 genomes]
rs73430186	0.95[EUR][1000 genomes]
rs73437900	0.81[EUR][1000 genomes]
rs73439811	0.84[EUR][1000 genomes]
rs738200	0.91[EUR][1000 genomes]
rs738627	0.91[EUR][1000 genomes]
rs8137200	0.95[EUR][1000 genomes]
rs8137808	0.88[EUR][1000 genomes]
rs9306457	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs9608696	0.83[CEU][hapmap]
rs9620797	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs9620799	0.92[EUR][1000 genomes]
rs9620803	0.92[EUR][1000 genomes]
rs9620804	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs9620808	0.83[CEU][hapmap]
rs9620809	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620810	0.83[CEU][hapmap]
rs9620811	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs9620817	0.90[CEU][hapmap]
rs9625467	0.91[EUR][1000 genomes]
rs9625475	0.91[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs9625477	0.91[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs9625478	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625481	0.91[EUR][1000 genomes]
rs9625484	0.92[EUR][1000 genomes]
rs9625487	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625492	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625501	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625508	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625510	0.98[EUR][1000 genomes]
rs9625512	0.83[CEU][hapmap]
rs9625513	0.83[CEU][hapmap]
rs9625515	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625516	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625520	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs9625521	0.83[CEU][hapmap]
rs9625522	0.83[CEU][hapmap]
rs9625523	0.83[CEU][hapmap]
rs9625524	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs9625534	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	nsv1061684	chr22:29026341-29088590	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv525906	chr22:29039427-29039615	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29004400-29041600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:29005800-29054000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:29014000-29044600	Weak transcription	Psoas Muscle	Psoas
4	chr22:29017000-29052000	Weak transcription	Fetal Lung	lung
5	chr22:29017400-29056200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:29024600-29048800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:29025800-29048600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:29026600-29053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:29034000-29052000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:29037200-29041600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:29037400-29052000	Weak transcription	Fetal Stomach	stomach
12	chr22:29037600-29048800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr22:29037800-29048600	Weak transcription	Fetal Muscle Leg	muscle
14	chr22:29038400-29039600	Enhancers	Fetal Heart	heart
15	chr22:29038400-29039600	Enhancers	HepG2	liver
16	chr22:29038800-29056400	Weak transcription	Fetal Intestine Small	intestine
17	chr22:29039400-29046200	Weak transcription	Left Ventricle	heart
18	chr22:29039400-29052200	Weak transcription	Pancreas	Pancrea

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