Variant report

Variant	rs7840274
Chromosome Location	chr8:124648796-124648797
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16898657	0.93[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs16898671	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs4871404	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs4871406	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124642000-124651800	Weak transcription	Right Ventricle	heart
2	chr8:124643200-124651800	Weak transcription	Psoas Muscle	Psoas
3	chr8:124643800-124650800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:124645000-124651800	Weak transcription	Fetal Heart	heart
5	chr8:124645600-124649200	Weak transcription	Hela-S3	cervix
6	chr8:124645800-124649200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:124646000-124651800	Weak transcription	Aorta	Aorta
8	chr8:124646000-124655800	Weak transcription	Osteobl	bone
9	chr8:124646400-124649200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:124647200-124649800	Enhancers	NH-A	brain
11	chr8:124647200-124649800	Enhancers	NHDF-Ad	bronchial
12	chr8:124647400-124650200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:124647600-124648800	Weak transcription	K562	blood
14	chr8:124648000-124651800	Weak transcription	Left Ventricle	heart
15	chr8:124648000-124652600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:124648200-124652200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:124648400-124649400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:124648600-124648800	Enhancers	Brain Hippocampus Middle	brain

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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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