Variant report

Variant	rs2015580
Chromosome Location	chr22:32326021-32326022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11703587	0.82[CEU][hapmap]
rs11703779	0.87[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4820994	0.87[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4820996	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4820997	0.82[CEU][hapmap]
rs4820998	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4820999	0.81[EUR][1000 genomes]
rs5753816	0.88[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753817	0.82[CEU][hapmap]
rs5753818	0.91[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5994449	0.90[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs5994451	0.91[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998173	0.85[ASN][1000 genomes]
rs5998176	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][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:19 , 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	chr22:32323400-32328800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:32324200-32326400	Enhancers	Fetal Stomach	stomach
5	chr22:32324800-32326200	Enhancers	Fetal Muscle Leg	muscle
6	chr22:32324800-32326400	Enhancers	Placenta	Placenta
7	chr22:32325200-32338800	Weak transcription	Fetal Thymus	thymus
8	chr22:32325400-32326200	Weak transcription	Right Atrium	heart
9	chr22:32325400-32329000	Weak transcription	Lung	lung
10	chr22:32325800-32326400	Enhancers	Fetal Muscle Trunk	muscle
11	chr22:32325800-32328800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:32325800-32329000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:32325800-32332000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:32326000-32328000	Weak transcription	Spleen	Spleen
15	chr22:32326000-32328800	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:32326000-32328800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr22:32326000-32331000	Weak transcription	K562	blood
18	chr22:32326000-32332200	Weak transcription	Brain Angular Gyrus	brain
19	chr22:32326000-32339600	Weak transcription	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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