Variant report

Variant	rs6997272
Chromosome Location	chr8:125816519-125816520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10102575	0.96[AFR][1000 genomes]
rs16899909	1.00[MEX][hapmap]
rs16899923	1.00[MEX][hapmap]
rs16900004	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs7002198	1.00[CEU][hapmap]
rs7003427	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73340152	1.00[EUR][1000 genomes]
rs73349127	1.00[EUR][1000 genomes]
rs73349160	1.00[EUR][1000 genomes]
rs73349175	1.00[EUR][1000 genomes]
rs7461335	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7464660	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829412	1.00[CEU][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 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	chr8:125811400-125820600	Weak transcription	Lung	lung
2	chr8:125813800-125822400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:125814800-125816600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:125815000-125816800	Enhancers	K562	blood
5	chr8:125815600-125819400	Weak transcription	HSMMtube	muscle
6	chr8:125815600-125820200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:125815600-125820200	Weak transcription	Osteobl	bone
8	chr8:125815600-125821400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:125815800-125816600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:125815800-125818600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:125815800-125818600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:125815800-125820000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:125815800-125820600	Weak transcription	Left Ventricle	heart
14	chr8:125816200-125816600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:125816200-125816600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:125816200-125816800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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