Variant report

Variant	rs4975215
Chromosome Location	chr4:130260427-130260428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12499334	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12505175	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12512124	0.90[ASN][1000 genomes]
rs17014612	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17014621	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4498146	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs55733425	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55875663	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56108227	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56690775	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57182662	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59196871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59326597	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59634627	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61070104	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62317267	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67778905	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[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	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
3	nsv879932	chr4:130167642-130264517	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130251000-130262800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:130256800-130263000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:130257800-130262800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:130258400-130267600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:130258800-130265400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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