Variant report

Variant	rs7814371
Chromosome Location	chr8:124201021-124201022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000253410	TF binding region
ENSG00000253258	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000253410	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11991144	0.85[AMR][1000 genomes]
rs11991436	0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992098	0.85[AMR][1000 genomes]
rs11992167	0.85[AMR][1000 genomes]
rs16898144	0.85[AMR][1000 genomes]
rs34654114	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73703770	0.85[AMR][1000 genomes]
rs73703771	0.85[AMR][1000 genomes]
rs7814158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817491	0.85[AMR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
2	chr8:124195000-124201800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:124197600-124201400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:124198600-124201200	Weak transcription	HMEC	breast
5	chr8:124199600-124201600	Strong transcription	Esophagus	oesophagus
6	chr8:124199800-124201600	Strong transcription	Hela-S3	cervix
7	chr8:124199800-124206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:124199800-124216600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:124200600-124201600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:124200600-124201600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:124200600-124201600	Genic enhancers	NHEK	skin
12	chr8:124201000-124201600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:124201000-124205200	Genic enhancers	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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