Variant report

Variant	rs6846249
Chromosome Location	chr4:125531787-125531788
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10452156	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726448	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390079	1.00[EUR][1000 genomes]
rs28854561	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34805939	1.00[EUR][1000 genomes]
rs4398536	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820002	1.00[ASN][1000 genomes]
rs6839780	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842707	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73847516	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv966542	chr4:125528212-125539843	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125506000-125538800	Weak transcription	Ovary	ovary
2	chr4:125518400-125538800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:125522800-125539200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:125523800-125552800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:125524600-125538600	Weak transcription	Lung	lung
6	chr4:125524800-125546000	Weak transcription	HUVEC	blood vessel
7	chr4:125524800-125553000	Weak transcription	HSMMtube	muscle
8	chr4:125526200-125539400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:125526400-125545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:125530200-125532000	Enhancers	HMEC	breast
11	chr4:125530600-125532000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:125530600-125532000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:125530600-125532200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:125530600-125532200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:125530800-125532000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:125531000-125531800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:125531400-125532000	Enhancers	NHEK	skin
18	chr4:125531600-125531800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:125531600-125532000	Enhancers	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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