Variant report

Variant	rs4128134
Chromosome Location	chr6:53571485-53571486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10452610	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13220574	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs13220665	1.00[JPT][hapmap]
rs34069307	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34274914	0.92[ASN][1000 genomes]
rs35360324	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35610624	0.92[ASN][1000 genomes]
rs3813849	1.00[JPT][hapmap]
rs4437470	0.92[ASN][1000 genomes]
rs4489155	1.00[JPT][hapmap]
rs4715424	1.00[JPT][hapmap]
rs6899886	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920831	0.92[ASN][1000 genomes]
rs7759946	1.00[JPT][hapmap]
rs9382234	1.00[JPT][hapmap]

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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4128134	HMGCLL1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53560200-53575600	Weak transcription	Pancreas	Pancrea
2	chr6:53568000-53572800	Weak transcription	Fetal Brain Male	brain
3	chr6:53568400-53572600	Weak transcription	Fetal Heart	heart
4	chr6:53570200-53578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:53571200-53571800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr6:53571400-53571600	Enhancers	Psoas Muscle	Psoas
7	chr6:53571400-53571600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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