Variant report

Variant	rs2017522
Chromosome Location	chr4:62815242-62815243
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10517550	0.93[ASN][1000 genomes]
rs12649738	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1397547	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1450894	0.87[ASN][1000 genomes]
rs17226342	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17292121	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28490110	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4860105	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4860446	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7672853	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs970358	0.86[ASN][1000 genomes]
rs989294	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989295	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs995447	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv428760	chr4:62649399-62824542	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62786600-62822200	Weak transcription	Brain Angular Gyrus	brain
2	chr4:62789200-62821600	Weak transcription	Fetal Lung	lung
3	chr4:62800000-62818600	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:62800600-62816200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:62800800-62815800	Weak transcription	Brain Substantia Nigra	brain
6	chr4:62802000-62816000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:62802000-62852000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:62804600-62819000	Weak transcription	Fetal Stomach	stomach
9	chr4:62804600-62845200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:62812200-62816000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:62814600-62821400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:62814800-62816200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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

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