Variant report

Variant	rs11944611
Chromosome Location	chr4:15907133-15907134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12513168	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136186	0.85[ASN][1000 genomes]
rs13136194	0.85[ASN][1000 genomes]
rs7699101	0.85[ASN][1000 genomes]
rs887110	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv878715	chr4:15840839-15947493	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15902600-15907600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:15905000-15907800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr4:15905400-15907800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr4:15906000-15907400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:15906400-15907200	Enhancers	Hela-S3	cervix
6	chr4:15906600-15907400	ZNF genes & repeats	HMEC	breast
7	chr4:15906600-15909200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:15906800-15907200	Enhancers	A549	lung
9	chr4:15907000-15907200	Transcr. at gene 5' and 3'	NHEK	skin
10	chr4:15907000-15908000	Bivalent Enhancer	Fetal Stomach	stomach
11	chr4:15907000-15908400	Enhancers	Stomach Mucosa	stomach
12	chr4:15907000-15909000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	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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