Variant report

Variant	rs2248409
Chromosome Location	chr13:80320345-80320346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10507900	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11619959	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12428029	0.86[EUR][1000 genomes]
rs12867107	0.80[EUR][1000 genomes]
rs2248413	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2248563	0.87[EUR][1000 genomes]
rs2262460	0.83[EUR][1000 genomes]
rs2329137	0.85[EUR][1000 genomes]
rs2329138	0.85[EUR][1000 genomes]
rs2783085	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2802634	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2802638	0.83[EUR][1000 genomes]
rs2802640	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2802641	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35661635	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4885658	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4885660	0.82[EUR][1000 genomes]
rs7327527	0.86[EUR][1000 genomes]
rs915260	0.81[EUR][1000 genomes]
rs9530958	0.84[EUR][1000 genomes]
rs9530959	0.82[EUR][1000 genomes]
rs9545191	0.81[AMR][1000 genomes];0.85[EUR][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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1039333	chr13:80289936-80333167	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80309800-80324400	Weak transcription	Right Atrium	heart
2	chr13:80311400-80324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:80311600-80323800	Weak transcription	HMEC	breast
4	chr13:80315400-80323000	Weak transcription	Fetal Muscle Leg	muscle
5	chr13:80315400-80324400	Weak transcription	Pancreas	Pancrea
6	chr13:80315400-80324400	Weak transcription	Small Intestine	intestine
7	chr13:80315800-80323000	Weak transcription	Fetal Heart	heart
8	chr13:80315800-80324600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr13:80317400-80322000	Weak transcription	Ovary	ovary
10	chr13:80317400-80323600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:80317400-80324000	Weak transcription	NHEK	skin
12	chr13:80319200-80324400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:80319400-80322800	Weak transcription	Fetal Kidney	kidney
14	chr13:80319600-80324000	Weak transcription	Fetal Stomach	stomach
15	chr13:80319600-80330400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:80319800-80322800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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