Variant report

Variant	rs28647168
Chromosome Location	chr22:30252457-30252458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs16988115	1.00[AMR][1000 genomes]
rs16988122	1.00[AMR][1000 genomes]
rs16988151	1.00[AMR][1000 genomes]
rs56733052	1.00[AMR][1000 genomes]
rs57258477	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57724305	1.00[AMR][1000 genomes]
rs58255360	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58538392	0.85[AFR][1000 genomes]
rs5997540	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997565	1.00[AMR][1000 genomes]
rs6006297	1.00[AMR][1000 genomes]
rs6006299	1.00[AMR][1000 genomes]
rs6006301	1.00[AMR][1000 genomes]
rs6006309	1.00[AMR][1000 genomes]
rs6006317	1.00[AMR][1000 genomes]
rs6006318	1.00[AMR][1000 genomes]
rs6006331	1.00[AMR][1000 genomes]
rs60245742	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61043203	1.00[AMR][1000 genomes]
rs61191536	1.00[AMR][1000 genomes]
rs61540772	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73391000	0.80[AFR][1000 genomes]
rs73394821	0.80[AFR][1000 genomes]
rs73394851	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394860	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394861	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394863	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394876	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396842	1.00[AMR][1000 genomes]
rs73396845	1.00[AMR][1000 genomes]
rs73398604	1.00[AMR][1000 genomes]
rs73398637	1.00[AMR][1000 genomes]
rs73398640	1.00[AMR][1000 genomes]
rs73398663	1.00[AMR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes]
rs73400633	1.00[AMR][1000 genomes]
rs73400648	1.00[AMR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes]
rs9625903	0.83[AMR][1000 genomes]

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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30248400-30254600	Weak transcription	HSMMtube	muscle
2	chr22:30250200-30253200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr22:30250200-30253200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr22:30251400-30252800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr22:30251600-30252600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:30251600-30252600	Enhancers	Adipose Nuclei	Adipose
7	chr22:30251600-30252600	Enhancers	Brain Angular Gyrus	brain
8	chr22:30251600-30252600	Enhancers	Brain Substantia Nigra	brain
9	chr22:30251600-30252600	Enhancers	Fetal Muscle Leg	muscle
10	chr22:30251600-30252800	Enhancers	Left Ventricle	heart
11	chr22:30251600-30253000	Enhancers	Fetal Heart	heart
12	chr22:30252200-30253000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr22:30252200-30253000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr22:30252400-30253000	Enhancers	Skeletal Muscle Female	skeletal muscle

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