Variant report

Variant	rs7309340
Chromosome Location	chr12:56454571-56454572
allele	C/T
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:18)

rs_ID	r²[population]
rs11171736	0.80[AFR][1000 genomes]
rs1581007	0.81[AFR][1000 genomes]
rs1619653	0.81[AFR][1000 genomes]
rs1689507	0.85[AFR][1000 genomes]
rs1702870	0.88[AFR][1000 genomes]
rs1702871	0.88[AFR][1000 genomes]
rs1702875	0.85[AFR][1000 genomes]
rs2452822	0.81[AFR][1000 genomes]
rs2456445	0.85[AFR][1000 genomes]
rs2456446	0.85[AFR][1000 genomes]
rs2456969	0.84[AFR][1000 genomes]
rs705706	0.83[AFR][1000 genomes]
rs772917	0.81[AFR][1000 genomes]
rs772925	0.85[AFR][1000 genomes]
rs772926	0.85[AFR][1000 genomes]
rs773118	0.84[AFR][1000 genomes]
rs7977521	0.88[AFR][1000 genomes]
rs9738150	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
2	chr12:56440800-56455600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:56449200-56456400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:56454400-56456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:56454400-56456200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:56454400-56456600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:56454400-56456600	Weak transcription	HMEC	breast
8	chr12:56454400-56456800	Weak transcription	NHEK	skin
9	chr12:56454400-56457000	Weak transcription	Osteobl	bone
10	chr12:56454400-56467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

Quick Search:

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

what's new

Quick links