Variant report

Variant	rs56253197
Chromosome Location	chr1:94496446-94496447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11803885	0.97[EUR][1000 genomes]
rs17110885	0.95[EUR][1000 genomes]
rs17110889	0.95[EUR][1000 genomes]
rs17110891	0.97[EUR][1000 genomes]
rs17110905	0.97[EUR][1000 genomes]
rs17110916	0.97[EUR][1000 genomes]
rs17389488	0.87[EUR][1000 genomes]
rs17389899	0.95[EUR][1000 genomes]
rs41292681	0.92[EUR][1000 genomes]
rs56307710	0.87[EUR][1000 genomes]
rs7543524	0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:94488000-94496600	Weak transcription	Lung	lung
2	chr1:94488200-94505000	Weak transcription	Spleen	Spleen
3	chr1:94488600-94502600	Weak transcription	Right Atrium	heart
4	chr1:94491400-94499000	Enhancers	HepG2	liver
5	chr1:94491600-94496600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:94491800-94496600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:94492200-94497200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:94492200-94510000	Weak transcription	Aorta	Aorta
9	chr1:94492800-94498600	Weak transcription	GM12878-XiMat	blood
10	chr1:94493000-94497200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:94496000-94496600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:94496000-94497000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:94496000-94500800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:94496200-94496600	Weak transcription	Gastric	stomach
15	chr1:94496200-94497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:94496400-94496600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:94496400-94496800	Enhancers	Brain Hippocampus Middle	brain
18	chr1:94496400-94497400	Enhancers	Brain Inferior Temporal Lobe	brain

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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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