Variant report

Variant	rs7315408
Chromosome Location	chr12:44308709-44308710
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10880574	0.87[AMR][1000 genomes]
rs1675786	0.87[EUR][1000 genomes]
rs1675791	0.82[EUR][1000 genomes]
rs61290421	0.87[AMR][1000 genomes]
rs73096923	0.87[AMR][1000 genomes]
rs7957146	0.87[EUR][1000 genomes]
rs7958314	0.87[EUR][1000 genomes]
rs7966024	0.87[EUR][1000 genomes]
rs7979369	0.87[AMR][1000 genomes];0.83[EUR][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	nsv526719	chr12:44298417-44315762	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44307000-44315600	Weak transcription	NHDF-Ad	bronchial
2	chr12:44307400-44324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:44307800-44308800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:44308000-44308800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:44308000-44308800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:44308000-44308800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:44308200-44309800	Enhancers	Left Ventricle	heart
8	chr12:44308400-44318400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:44308600-44314800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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