Variant report

Variant	rs73721750
Chromosome Location	chr6:11499274-11499275
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6912815	0.97[AFR][1000 genomes]
rs73721742	0.91[AFR][1000 genomes]
rs73721745	0.97[AFR][1000 genomes]
rs73721746	0.97[AFR][1000 genomes]
rs73721748	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721754	0.84[AFR][1000 genomes]
rs73721757	1.00[AMR][1000 genomes]
rs7757865	0.84[AFR][1000 genomes]
rs9689511	0.97[AFR][1000 genomes];1.00[AMR][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11493000-11499800	Weak transcription	NH-A	brain
2	chr6:11494400-11500600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:11496600-11499800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:11496600-11500000	Weak transcription	Osteobl	bone
5	chr6:11496600-11500200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:11497000-11499800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:11497000-11500000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:11497000-11500200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:11497200-11500000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:11497200-11500000	Weak transcription	NHEK	skin
11	chr6:11497400-11500000	Weak transcription	HepG2	liver
12	chr6:11498400-11500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:11498600-11499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:11498600-11500200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:11499200-11499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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