Variant report

Variant	rs12530485
Chromosome Location	chr7:80364097-80364098
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11768155	1.00[ASN][1000 genomes]
rs12539736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233776	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527467	0.98[ASN][1000 genomes]
rs1527468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852538	1.00[ASN][1000 genomes]
rs1852539	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1949972	1.00[ASN][1000 genomes]
rs2272351	1.00[ASN][1000 genomes]
rs2886792	1.00[ASN][1000 genomes]
rs3778672	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6979109	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73370806	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7456998	1.00[EUR][1000 genomes];1.00[ASN][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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr7:80355400-80365800	Weak transcription	HSMM	muscle
2	chr7:80359200-80369000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:80359400-80365800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:80359400-80369600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:80359400-80370200	Weak transcription	NHLF	lung
6	chr7:80359400-80378000	Weak transcription	Psoas Muscle	Psoas
7	chr7:80359600-80373800	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:80360600-80377800	Weak transcription	Left Ventricle	heart
9	chr7:80361400-80373600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:80363600-80385200	Weak transcription	Fetal Stomach	stomach

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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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