Variant report

Variant	rs13273000
Chromosome Location	chr8:124610213-124610214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10089696	0.89[ASN][1000 genomes]
rs10091164	0.88[ASN][1000 genomes]
rs10102942	0.88[ASN][1000 genomes]
rs11776999	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12547165	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12547541	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13250678	0.88[ASN][1000 genomes]
rs13251106	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13252512	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13261294	0.99[ASN][1000 genomes]
rs13266971	0.87[EUR][1000 genomes]
rs35805809	0.80[EUR][1000 genomes]
rs4515533	0.88[ASN][1000 genomes]
rs4870857	0.86[ASN][1000 genomes]
rs4870858	0.88[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124608000-124610400	Enhancers	Esophagus	oesophagus
2	chr8:124608600-124610400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:124608600-124610400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:124608600-124610400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr8:124608600-124610400	Enhancers	HMEC	breast
6	chr8:124608600-124610400	Enhancers	HSMMtube	muscle
7	chr8:124609000-124610400	Enhancers	HSMM	muscle
8	chr8:124609200-124610400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:124609200-124610400	Enhancers	Aorta	Aorta
10	chr8:124609200-124610400	Enhancers	Pancreas	Pancrea
11	chr8:124609200-124610400	Enhancers	Right Atrium	heart
12	chr8:124609200-124615000	Weak transcription	Fetal Intestine Small	intestine
13	chr8:124609600-124610400	Enhancers	Rectal Smooth Muscle	rectum
14	chr8:124609800-124620800	Weak transcription	Psoas Muscle	Psoas
15	chr8:124610200-124610400	Enhancers	Stomach Smooth Muscle	stomach

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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