Variant report

Variant	rs4803658
Chromosome Location	chr19:44290013-44290014
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
KCNN4	TF binding region
ENSG00000159871	Chromatin interaction
ENSG00000105771	Chromatin interaction
ENSG00000124466	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10404672	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10404692	0.85[AMR][1000 genomes]
rs10405457	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10421887	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10422990	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11665924	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11669175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670158	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11671215	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12460161	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12463370	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12974061	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3760982	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3760983	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3760984	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802199	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802200	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60184524	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61138927	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4803658	AC115522.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4803658	KCNN4	cis	Whole Blood	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44285400-44291400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:44287400-44291400	Enhancers	HMEC	breast
3	chr19:44288000-44290200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:44288400-44290200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr19:44288800-44290200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:44289400-44302600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:44289600-44290800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:44289600-44291000	Weak transcription	HSMM	muscle
9	chr19:44289600-44293000	Weak transcription	GM12878-XiMat	blood
10	chr19:44289600-44294800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr19:44289600-44295400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:44289800-44290400	Enhancers	Hela-S3	cervix
13	chr19:44289800-44290800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:44289800-44300800	Weak transcription	Placenta	Placenta
15	chr19:44290000-44302400	Weak transcription	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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