Variant report

Variant	rs72888108
Chromosome Location	chr2:173218169-173218170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10209443	0.90[EUR][1000 genomes]
rs56011402	0.82[EUR][1000 genomes]
rs57540835	0.90[EUR][1000 genomes]
rs66486916	0.81[EUR][1000 genomes]
rs67153018	0.90[EUR][1000 genomes]
rs68139840	0.90[EUR][1000 genomes]
rs72888113	0.92[ASN][1000 genomes]
rs72888132	0.89[ASN][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr2:173204600-173218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:173207200-173219200	Weak transcription	Right Atrium	heart
3	chr2:173210400-173219000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:173214800-173218600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:173215600-173219800	Enhancers	Pancreas	Pancrea
6	chr2:173216000-173221000	Weak transcription	Fetal Thymus	thymus
7	chr2:173216200-173221400	Weak transcription	Spleen	Spleen
8	chr2:173216600-173221800	Weak transcription	HSMMtube	muscle
9	chr2:173216800-173222200	Weak transcription	Left Ventricle	heart
10	chr2:173216800-173223600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:173217200-173222400	Weak transcription	Psoas Muscle	Psoas
12	chr2:173217600-173219000	Weak transcription	Stomach Mucosa	stomach
13	chr2:173218000-173223200	Weak transcription	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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