Variant report

Variant	rs997233
Chromosome Location	chr4:15909179-15909180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12513168	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13103381	1.00[ASN][1000 genomes]
rs13136186	0.82[ASN][1000 genomes]
rs13136194	0.82[ASN][1000 genomes]
rs2532069	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2532070	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7699101	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs887110	0.89[AMR][1000 genomes];0.90[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15906600-15909200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:15908000-15909600	Enhancers	Fetal Stomach	stomach
3	chr4:15908200-15909400	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr4:15908200-15911800	Weak transcription	Esophagus	oesophagus
5	chr4:15908200-15913800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:15908400-15912600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:15908400-15913800	Weak transcription	Placenta	Placenta
8	chr4:15908600-15909600	Enhancers	Rectal Smooth Muscle	rectum
9	chr4:15908600-15914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:15908800-15909600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:15909000-15909400	Enhancers	Colon Smooth Muscle	Colon
12	chr4:15909000-15909600	Weak transcription	NHEK	skin
13	chr4:15909000-15909800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:15909000-15912000	Weak transcription	Hela-S3	cervix
15	chr4:15909000-15913600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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