Variant report

Variant	rs6999569
Chromosome Location	chr8:126475770-126475771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10808546	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17321515	0.94[EUR][1000 genomes]
rs2001844	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2954019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954022	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2954029	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2954031	0.82[EUR][1000 genomes]
rs2980853	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2980854	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980855	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980856	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980860	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2980868	0.94[EUR][1000 genomes]
rs2980869	0.94[EUR][1000 genomes]
rs2980871	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2980875	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2980882	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2980886	0.93[EUR][1000 genomes]
rs6982636	0.86[AMR][1000 genomes];0.96[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126464800-126478000	Weak transcription	Gastric	stomach
2	chr8:126465200-126477800	Weak transcription	Fetal Heart	heart
3	chr8:126472400-126479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:126475000-126476600	Enhancers	Fetal Lung	lung
5	chr8:126475400-126475800	Flanking Active TSS	Placenta	Placenta
6	chr8:126475400-126476000	Active TSS	Liver	Liver
7	chr8:126475400-126477600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:126475400-126479200	Weak transcription	A549	lung
9	chr8:126475600-126476000	Active TSS	Hela-S3	cervix
10	chr8:126475600-126476200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:126475600-126477000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:126475600-126477400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:126475600-126477800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:126475600-126478000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:126475600-126478200	Weak transcription	HepG2	liver
16	chr8:126475600-126478800	Weak transcription	K562	blood

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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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