Variant report

Variant	rs2618951
Chromosome Location	chr4:22671881-22671882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12501294	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1478964	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1843485	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2127177	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2219802	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2250074	0.85[ASN][1000 genomes]
rs2581964	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2581968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2581969	0.83[EUR][1000 genomes]
rs2581980	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2618953	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2618960	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2629975	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3101799	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4697333	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57301753	0.84[AMR][1000 genomes];0.86[EUR][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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv829883	chr4:22666326-22842517	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22663200-22674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:22669200-22673800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:22669400-22672600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:22670200-22674200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:22670400-22678600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr4:22670600-22672000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr4:22670600-22681800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:22670800-22672600	Weak transcription	Fetal Heart	heart
9	chr4:22670800-22672800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:22670800-22673800	Enhancers	Primary T cells from cord blood	blood
11	chr4:22670800-22673800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:22670800-22673800	Weak transcription	Fetal Thymus	thymus
13	chr4:22671400-22672600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:22671400-22672600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:22671600-22672200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:22671600-22672600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:22671600-22673800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:22671800-22672800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:22671800-22673600	Weak transcription	Primary B cells from cord blood	blood

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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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