Variant report

Variant	rs742116
Chromosome Location	chr6:48850906-48850907
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10948445	0.88[ASN][1000 genomes]
rs11759831	0.87[EUR][1000 genomes]
rs12190429	0.88[ASN][1000 genomes]
rs17290000	0.85[ASN][1000 genomes]
rs1938203	0.82[ASN][1000 genomes]
rs1938206	0.82[ASN][1000 genomes]
rs2211639	0.88[ASN][1000 genomes]
rs2396885	0.82[ASN][1000 genomes]
rs2495867	0.82[ASN][1000 genomes]
rs56102631	0.82[ASN][1000 genomes]
rs72860769	0.91[ASN][1000 genomes]
rs72862092	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72862093	0.85[EUR][1000 genomes]
rs9357589	0.84[EUR][1000 genomes]
rs9367334	0.88[ASN][1000 genomes]
rs9367336	0.82[EUR][1000 genomes]
rs9395406	0.82[ASN][1000 genomes]
rs9395410	0.88[ASN][1000 genomes]
rs9395426	0.84[EUR][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	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv603037	chr6:48804862-48995221	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv5292	chr6:48837853-48884078	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48832200-48944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48850600-48851200	Enhancers	HUVEC	blood vessel
3	chr6:48850800-48851200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:48850800-48851200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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