Variant report

Variant	rs16823483
Chromosome Location	chr2:144855468-144855469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:144852060..144853954-chr2:144855359..144857204,2	K562	blood:
2	chr2:144841519..144844337-chr2:144854788..144856843,2	K562	blood:
3	chr2:144835744..144838498-chr2:144855384..144857120,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10496955	1.00[ASW][hapmap];0.88[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10496958	0.81[ASW][hapmap];0.87[LWK][hapmap];0.83[MKK][hapmap]
rs12328646	1.00[EUR][1000 genomes]
rs16823430	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16823453	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823456	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823477	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823486	0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823490	1.00[EUR][1000 genomes]
rs16823495	1.00[EUR][1000 genomes]
rs16823512	0.81[ASW][hapmap];0.87[LWK][hapmap];0.83[MKK][hapmap]
rs16823515	0.81[ASW][hapmap];0.87[LWK][hapmap];0.83[MKK][hapmap]
rs16823539	0.81[ASW][hapmap];0.81[LWK][hapmap]
rs16823544	1.00[TSI][hapmap]
rs16823552	0.81[ASW][hapmap];0.81[LWK][hapmap]
rs16823556	0.81[ASW][hapmap];0.81[LWK][hapmap]
rs16823563	0.81[ASW][hapmap];0.81[LWK][hapmap]
rs16823564	0.81[ASW][hapmap];0.87[LWK][hapmap]
rs16823609	1.00[TSI][hapmap]
rs57517882	1.00[EUR][1000 genomes]
rs58046208	1.00[EUR][1000 genomes]
rs58057530	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59638652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6430049	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6709167	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6719927	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6732179	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6733058	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736292	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6746667	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6747751	1.00[EUR][1000 genomes]
rs6760118	0.81[ASW][hapmap];0.81[LWK][hapmap]
rs72992116	1.00[EUR][1000 genomes]
rs73006231	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73006237	1.00[EUR][1000 genomes]
rs73006242	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006264	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006270	1.00[EUR][1000 genomes]
rs73006274	1.00[EUR][1000 genomes]
rs73006276	1.00[EUR][1000 genomes]
rs73006279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964986	1.00[EUR][1000 genomes]
rs7571370	0.81[ASW][hapmap];0.87[LWK][hapmap];0.83[MKK][hapmap]
rs7572418	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7586117	1.00[EUR][1000 genomes]
rs7595013	0.81[ASW][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144843000-144857200	Weak transcription	Psoas Muscle	Psoas
2	chr2:144843200-144857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:144845200-144857000	Weak transcription	NH-A	brain
4	chr2:144845400-144857000	Weak transcription	HSMM	muscle
5	chr2:144848000-144861600	Weak transcription	Ovary	ovary
6	chr2:144853000-144862200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:144853400-144855800	Enhancers	Fetal Lung	lung
8	chr2:144853800-144856000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:144854200-144855800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:144854200-144855800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:144854400-144857400	Weak transcription	Pancreas	Pancrea
12	chr2:144854400-144862000	Weak transcription	Right Ventricle	heart
13	chr2:144854400-144862200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:144854800-144855600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:144854800-144855800	Enhancers	NHDF-Ad	bronchial
16	chr2:144854800-144856000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:144854800-144856000	Enhancers	NHLF	lung
18	chr2:144854800-144857000	Weak transcription	Fetal Kidney	kidney
19	chr2:144855000-144855800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:144855000-144855800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:144855000-144855800	Enhancers	Right Atrium	heart
22	chr2:144855000-144856000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr2:144855000-144856000	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:144855000-144856000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:144855000-144856000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:144855200-144855600	Enhancers	Primary B cells from cord blood	blood
27	chr2:144855200-144855600	Flanking Active TSS	Fetal Heart	heart
28	chr2:144855200-144857400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links