Variant report

Variant	rs16850945
Chromosome Location	chr4:75193070-75193071
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75192786..75195576-chr4:75240334..75242838,2	K562	blood:
2	chr4:75192691..75195126-chr4:75328844..75330528,2	K562	blood:
3	chr4:75192372..75204703-chr4:75227413..75239566,26	K562	blood:

Variant related genes	Relation type
ENSG00000124882	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1460005	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850793	1.00[EUR][1000 genomes]
rs16850798	1.00[EUR][1000 genomes]
rs16850813	1.00[EUR][1000 genomes]
rs16850818	0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850842	0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850845	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850847	0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850852	0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850933	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1993664	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56192801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57516973	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58215609	1.00[EUR][1000 genomes]
rs58398242	1.00[EUR][1000 genomes]
rs59142088	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59172186	1.00[EUR][1000 genomes]
rs59175703	1.00[EUR][1000 genomes]
rs60181583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60560556	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61119489	1.00[EUR][1000 genomes]
rs6830535	0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6836879	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs725142	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824433	1.00[EUR][1000 genomes]
rs73824435	1.00[EUR][1000 genomes]
rs73824446	1.00[EUR][1000 genomes]
rs73824447	1.00[EUR][1000 genomes]
rs73824448	1.00[EUR][1000 genomes]
rs73824449	1.00[EUR][1000 genomes]
rs73824453	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824457	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824458	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824469	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs922136	1.00[EUR][1000 genomes]
rs9685225	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75192400-75193200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:75192600-75193200	Flanking Active TSS	K562	blood
3	chr4:75192600-75193400	Genic enhancers	NHEK	skin
4	chr4:75192800-75193200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr4:75192800-75193200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:75192800-75193200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:75192800-75193400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:75192800-75193400	Enhancers	HUVEC	blood vessel
9	chr4:75192800-75194200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:75192800-75194600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:75192800-75194800	Enhancers	Brain Germinal Matrix	brain
12	chr4:75192800-75194800	Enhancers	HMEC	breast
13	chr4:75193000-75194000	Enhancers	Osteobl	bone

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