Variant report

Variant	rs2103601
Chromosome Location	chr22:28712043-28712044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10483144	0.90[AFR][1000 genomes]
rs10483149	1.00[YRI][hapmap]
rs16985919	0.90[AFR][1000 genomes]
rs16985921	0.90[AFR][1000 genomes]
rs16985986	0.82[AFR][1000 genomes]
rs16986023	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16986030	0.93[AFR][1000 genomes]
rs16986041	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs16986116	0.86[AFR][1000 genomes]
rs16986128	1.00[AFR][1000 genomes]
rs16986168	0.93[AFR][1000 genomes]
rs16986172	0.91[YRI][hapmap];0.93[AFR][1000 genomes]
rs16986181	0.93[AFR][1000 genomes]
rs16986193	1.00[AFR][1000 genomes]
rs16986219	1.00[AFR][1000 genomes]
rs16986231	1.00[AFR][1000 genomes]
rs16986238	0.93[AFR][1000 genomes]
rs16986240	0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs16986246	1.00[AFR][1000 genomes]
rs16986249	1.00[AFR][1000 genomes]
rs16986259	1.00[AFR][1000 genomes]
rs16986349	1.00[AFR][1000 genomes]
rs16986405	1.00[YRI][hapmap]
rs16986435	1.00[YRI][hapmap]
rs16986487	1.00[YRI][hapmap]
rs2092498	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs57301669	0.93[AFR][1000 genomes]
rs58713460	1.00[AFR][1000 genomes]
rs60811750	1.00[AFR][1000 genomes]
rs61317772	0.86[AFR][1000 genomes]
rs9625433	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv526760	chr22:28706220-28719656	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28693800-28716000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:28696200-28716000	Weak transcription	Fetal Lung	lung
3	chr22:28702800-28714200	Weak transcription	Dnd41	blood
4	chr22:28710800-28712400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr22:28711000-28718400	Weak transcription	Stomach Mucosa	stomach
6	chr22:28711000-28719600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:28711200-28712200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:28711200-28713000	Enhancers	K562	blood
9	chr22:28711600-28712200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:28711800-28712600	Enhancers	NHEK	skin
11	chr22:28711800-28713000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:28711800-28713000	Enhancers	HepG2	liver
13	chr22:28712000-28712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:28712000-28718800	Weak transcription	Gastric	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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