Variant report

Variant	rs73339405
Chromosome Location	chr8:124635503-124635504
allele	A/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:12)

rs_ID	r²[population]
rs10956138	0.82[ASN][1000 genomes]
rs11991567	0.93[ASN][1000 genomes]
rs12545556	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12547295	0.82[ASN][1000 genomes]
rs12550449	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16898637	0.93[ASN][1000 genomes]
rs59344306	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62520925	0.86[ASN][1000 genomes]
rs6470163	0.96[ASN][1000 genomes]
rs7001678	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7816145	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7825091	0.82[ASN][1000 genomes]

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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124629200-124645400	Weak transcription	Aorta	Aorta
2	chr8:124630400-124635600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:124631200-124643000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:124633600-124637400	Enhancers	Fetal Heart	heart
5	chr8:124634200-124642600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:124634400-124635800	Enhancers	Fetal Intestine Small	intestine
7	chr8:124634400-124638800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:124634600-124635600	Enhancers	K562	blood
9	chr8:124634600-124635800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:124634800-124636000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:124635200-124635600	Enhancers	Colon Smooth Muscle	Colon
12	chr8:124635200-124635600	Enhancers	Rectal Smooth Muscle	rectum
13	chr8:124635200-124639400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:124635200-124639800	Weak transcription	Fetal Intestine Large	intestine
15	chr8:124635200-124641600	Weak transcription	Left Ventricle	heart
16	chr8:124635200-124642400	Weak transcription	HSMMtube	muscle
17	chr8:124635200-124642800	Weak transcription	Placenta	Placenta

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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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