Variant report

Variant	rs12150041
Chromosome Location	chr17:20977055-20977056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11204332	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985976	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62059044	0.86[ASN][1000 genomes]
rs7218954	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20970200-20978600	Weak transcription	HSMMtube	muscle
2	chr17:20973600-20977600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:20974200-20978400	Weak transcription	HSMM	muscle
4	chr17:20975000-20983400	Enhancers	Fetal Brain Male	brain
5	chr17:20975400-20979000	Enhancers	Fetal Muscle Trunk	muscle
6	chr17:20976200-20979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:20976200-20989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:20976400-20978800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:20976600-20977600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:20976600-20977800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr17:20976600-20978400	Weak transcription	Brain Hippocampus Middle	brain
12	chr17:20976800-20977200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:20976800-20978400	Weak transcription	Fetal Stomach	stomach
14	chr17:20977000-20977400	Weak transcription	Brain Germinal Matrix	brain
15	chr17:20977000-20977400	Weak transcription	Fetal Brain Female	brain
16	chr17:20977000-20978200	Weak transcription	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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