Variant report

Variant	rs16989679
Chromosome Location	chr22:32329512-32329513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32328831..32330613-chr22:32331396..32333711,2	K562	blood:
2	chr22:32329388..32335571-chr22:32336708..32343906,17	K562	blood:
3	chr22:32329277..32332045-chr22:32345243..32347387,3	K562	blood:

Variant related genes	Relation type
ENSG00000128254	Chromatin interaction
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12627781	1.00[AMR][1000 genomes]
rs58334257	1.00[AMR][1000 genomes]
rs58504390	1.00[AMR][1000 genomes]
rs59243243	1.00[AMR][1000 genomes]
rs7287793	1.00[AMR][1000 genomes]
rs7291269	1.00[AMR][1000 genomes]
rs7292270	1.00[AMR][1000 genomes]
rs73391075	1.00[AMR][1000 genomes]
rs73406096	1.00[AMR][1000 genomes]
rs73406102	1.00[AMR][1000 genomes]
rs73407905	1.00[AMR][1000 genomes]
rs73407909	1.00[AMR][1000 genomes]
rs73407924	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr22:32304400-32339600	Weak transcription	Brain Germinal Matrix	brain
2	chr22:32319600-32338000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:32325200-32338800	Weak transcription	Fetal Thymus	thymus
4	chr22:32325800-32332000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr22:32326000-32331000	Weak transcription	K562	blood
6	chr22:32326000-32332200	Weak transcription	Brain Angular Gyrus	brain
7	chr22:32326000-32339600	Weak transcription	Fetal Lung	lung
8	chr22:32326400-32339200	Weak transcription	Fetal Stomach	stomach
9	chr22:32327400-32329800	Enhancers	Fetal Muscle Leg	muscle
10	chr22:32328000-32329600	Enhancers	Fetal Muscle Trunk	muscle
11	chr22:32328000-32329600	Weak transcription	Placenta	Placenta
12	chr22:32328000-32329800	Enhancers	Spleen	Spleen
13	chr22:32328000-32331200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:32328600-32329600	Enhancers	HepG2	liver
15	chr22:32329000-32329800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:32329200-32332000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:32329200-32332000	Weak transcription	Left Ventricle	heart
18	chr22:32329200-32339600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:32329400-32329600	Enhancers	Brain Hippocampus Middle	brain
20	chr22:32329400-32331400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr22:32329400-32332000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:32329400-32332400	Weak transcription	Lung	lung

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