Variant report

Variant	rs2116985
Chromosome Location	chr4:124810733-124810734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1347189	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469718	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469720	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007605	0.81[ASN][1000 genomes]
rs1821308	0.91[ASN][1000 genomes]
rs2163876	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs2390607	0.81[ASN][1000 genomes]
rs28525675	0.84[ASN][1000 genomes]
rs3097929	0.91[ASN][1000 genomes]
rs3097931	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3097936	0.86[ASN][1000 genomes]
rs3097938	0.87[ASN][1000 genomes]
rs3097940	0.85[ASN][1000 genomes]
rs3113377	0.88[ASN][1000 genomes]
rs3113378	0.85[ASN][1000 genomes]
rs3113392	0.81[ASN][1000 genomes]
rs3113393	0.83[ASN][1000 genomes]
rs6838706	0.81[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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv432623	chr4:124780908-124851395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv830049	chr4:124793932-124955708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	7 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	chr4:124794400-124813000	Weak transcription	Psoas Muscle	Psoas
2	chr4:124799400-124813200	Weak transcription	Fetal Heart	heart
3	chr4:124809600-124811600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:124810200-124811600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:124810600-124810800	Enhancers	Esophagus	oesophagus
6	chr4:124810600-124810800	Enhancers	Left Ventricle	heart
7	chr4:124810600-124811000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:124810600-124811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:124810600-124811000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:124810600-124811000	Enhancers	Fetal Lung	lung
11	chr4:124810600-124811000	Enhancers	Fetal Muscle Leg	muscle
12	chr4:124810600-124811000	Enhancers	HUVEC	blood vessel
13	chr4:124810600-124811400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:124810600-124811600	Enhancers	NHLF	lung
15	chr4:124810600-124814800	Enhancers	NHDF-Ad	bronchial

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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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