Variant report

Variant	rs12204180
Chromosome Location	chr6:44165544-44165545
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6901767	0.92[ASN][1000 genomes]
rs7768389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9349276	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9369463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44154400-44168400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:44160800-44166600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:44160800-44167600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:44160800-44168400	Weak transcription	Right Atrium	heart
5	chr6:44160800-44168400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:44161200-44168400	Weak transcription	K562	blood
7	chr6:44162600-44168400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:44164800-44165600	Bivalent Enhancer	HepG2	liver
9	chr6:44165000-44168400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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