Variant report

Variant	rs17014612
Chromosome Location	chr4:130267509-130267510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12499334	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12505175	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12512124	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17014621	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4498146	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4975215	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55733425	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55875663	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56108227	0.91[EUR][1000 genomes]
rs56690775	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57182662	0.93[EUR][1000 genomes]
rs59196871	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59326597	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59634627	0.93[EUR][1000 genomes]
rs61070104	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62317267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67778905	0.93[EUR][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	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv830058	chr4:130136025-130315471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130258400-130267600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:130264000-130268000	Weak transcription	Fetal Kidney	kidney
3	chr4:130264200-130268000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:130265200-130268200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr4:130265600-130268200	Enhancers	Fetal Brain Male	brain
6	chr4:130266000-130272000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:130267000-130271200	Weak transcription	Fetal Lung	lung
8	chr4:130267400-130267600	Enhancers	Fetal Intestine Large	intestine
9	chr4:130267400-130267800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:130267400-130268000	Enhancers	Fetal Brain Female	brain

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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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