Variant report

Variant	rs9992937
Chromosome Location	chr4:28438525-28438526
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:5)

rs_ID	r²[population]
rs10028579	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1588466	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2175326	0.91[ASN][1000 genomes]
rs56339662	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678404	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv878775	chr4:28163856-28473048	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000514	chr4:28192982-28445194	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1010133	chr4:28273244-28642942	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1014938	chr4:28277683-28642942	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:28429200-28445000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:28436200-28438600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:28436200-28439000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:28436200-28439000	Enhancers	NHEK	skin
5	chr4:28436200-28439200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:28436400-28438800	Enhancers	HMEC	breast
7	chr4:28436600-28438800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:28436600-28439000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:28437000-28438600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:28437000-28438600	Enhancers	Fetal Intestine Large	intestine
11	chr4:28437000-28438800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:28437600-28438800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:28437600-28439000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:28438000-28438600	Enhancers	Fetal Kidney	kidney

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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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