Variant report

Variant	rs5749508
Chromosome Location	chr22:33174439-33174440
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:17)

rs_ID	r²[population]
rs17503	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2001048	0.91[EUR][1000 genomes]
rs2001049	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2001050	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2001051	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28496892	0.88[EUR][1000 genomes]
rs3788505	0.88[EUR][1000 genomes]
rs4821099	0.88[EUR][1000 genomes]
rs5749507	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5754252	0.80[EUR][1000 genomes]
rs5754255	0.85[EUR][1000 genomes]
rs5754259	0.88[EUR][1000 genomes]
rs5754275	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5754276	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5754277	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5994626	0.86[EUR][1000 genomes]
rs5994627	0.88[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	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:33169200-33175400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:33171600-33174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:33171800-33175000	Enhancers	HepG2	liver
6	chr22:33172600-33175400	Weak transcription	Liver	Liver
7	chr22:33173000-33175600	Weak transcription	Pancreas	Pancrea
8	chr22:33173400-33177400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:33173400-33179000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:33173600-33175000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:33173800-33174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:33174200-33175600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:33174200-33175600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:33174200-33175600	Weak transcription	Fetal Thymus	thymus
15	chr22:33174200-33184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:33174400-33175600	Weak transcription	Adipose Nuclei	Adipose

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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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