Variant report

Variant	rs4820999
Chromosome Location	chr22:32325582-32325583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32325293..32327181-chr22:32330548..32332064,2	MCF-7	breast:
2	chr22:32325392..32328514-chr22:32338839..32342946,4	MCF-7	breast:
3	chr22:32321616..32325715-chr22:32339030..32342356,3	MCF-7	breast:
4	chr22:32320601..32327336-chr22:32339153..32343531,7	K562	blood:
5	chr22:32324129..32327754-chr22:32332093..32337306,5	K562	blood:
6	chr22:32323158..32326608-chr22:32339959..32342219,4	K562	blood:

Variant related genes	Relation type
ENSG00000128254	Chromatin interaction
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11703587	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11703779	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2015580	0.81[EUR][1000 genomes]
rs4820996	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4820997	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4820998	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749339	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753816	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753817	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753818	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753820	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5994451	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5998168	0.86[ASN][1000 genomes]
rs5998176	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9619241	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[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:32 , 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	chr22:32324800-32325800	Enhancers	Brain Cingulate Gyrus	brain
6	chr22:32324800-32325800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr22:32324800-32325800	Enhancers	NHDF-Ad	bronchial
8	chr22:32324800-32326000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:32324800-32326000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:32324800-32326000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:32324800-32326000	Enhancers	Brain Substantia Nigra	brain
12	chr22:32324800-32326000	Enhancers	K562	blood
13	chr22:32324800-32326200	Enhancers	Fetal Muscle Leg	muscle
14	chr22:32324800-32326400	Enhancers	Placenta	Placenta
15	chr22:32325000-32325600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:32325000-32325800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:32325000-32325800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:32325000-32325800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr22:32325000-32325800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:32325000-32326000	Enhancers	Brain Angular Gyrus	brain
21	chr22:32325000-32326000	Enhancers	Brain Hippocampus Middle	brain
22	chr22:32325000-32326000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr22:32325000-32326000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr22:32325000-32326000	Enhancers	Fetal Intestine Small	intestine
25	chr22:32325000-32326000	Enhancers	Fetal Lung	lung
26	chr22:32325000-32326000	Enhancers	HSMM	muscle
27	chr22:32325200-32325800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr22:32325200-32325800	Active TSS	Spleen	Spleen
29	chr22:32325200-32326000	Enhancers	Brain Anterior Caudate	brain
30	chr22:32325200-32338800	Weak transcription	Fetal Thymus	thymus
31	chr22:32325400-32326200	Weak transcription	Right Atrium	heart
32	chr22:32325400-32329000	Weak transcription	Lung	lung

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