Variant report

Variant	rs16823379
Chromosome Location	chr2:144726659-144726660
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144720023..144721689-chr2:144724897..144726863,2	K562	blood:
2	chr2:144719835..144721689-chr2:144724393..144726863,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10173322	0.86[EUR][1000 genomes]
rs10197599	0.86[EUR][1000 genomes]
rs10439175	0.86[EUR][1000 genomes]
rs10439191	0.90[EUR][1000 genomes]
rs12615549	0.87[TSI][hapmap]
rs13406608	0.90[EUR][1000 genomes]
rs13406634	0.86[EUR][1000 genomes]
rs13411437	0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs13415860	0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs13416245	0.90[EUR][1000 genomes]
rs1344628	0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs1429096	1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1429098	0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1465366	0.87[TSI][hapmap]
rs16823411	0.90[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16823476	1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16823541	0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs16848271	1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16855315	1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2303544	0.86[EUR][1000 genomes]
rs28420848	0.90[EUR][1000 genomes]
rs28479091	0.90[EUR][1000 genomes]
rs28521602	0.96[ASN][1000 genomes]
rs28705915	0.90[EUR][1000 genomes]
rs3806478	0.90[CHB][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3806479	1.00[ASW][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3806480	1.00[ASW][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4662361	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4662362	1.00[ASW][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4662363	1.00[ASW][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4662368	0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs4662369	0.90[EUR][1000 genomes]
rs55681388	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55766236	0.90[EUR][1000 genomes]
rs55803436	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55922892	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56048525	0.90[EUR][1000 genomes]
rs56181240	0.90[EUR][1000 genomes]
rs56203039	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56271766	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56302598	1.00[AMR][1000 genomes]
rs56317913	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56361359	0.90[EUR][1000 genomes]
rs56385884	0.98[ASN][1000 genomes]
rs6707579	0.86[EUR][1000 genomes]
rs6726343	0.90[EUR][1000 genomes]
rs73008247	0.86[EUR][1000 genomes]
rs73964929	0.86[EUR][1000 genomes]
rs7563626	0.86[EUR][1000 genomes]
rs959766	0.87[TSI][hapmap]
rs959767	0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv962082	chr2:144718070-144728425	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144699600-144730400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:144704600-144728800	Weak transcription	Spleen	Spleen
3	chr2:144704800-144730800	Weak transcription	Left Ventricle	heart
4	chr2:144713600-144780000	Weak transcription	HSMMtube	muscle
5	chr2:144718200-144732000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:144719000-144727400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:144723000-144795600	Weak transcription	Primary T cells from cord blood	blood
8	chr2:144723800-144727400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:144723800-144742000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:144724600-144741800	Weak transcription	Fetal Lung	lung
11	chr2:144725800-144727000	Enhancers	NHEK	skin
12	chr2:144725800-144727400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:144726000-144727400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:144726200-144726800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr2:144726200-144726800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:144726200-144780800	Weak transcription	Primary B cells from cord blood	blood
17	chr2:144726400-144726800	Enhancers	HMEC	breast

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