Variant report

Variant	rs16850847
Chromosome Location	chr4:75152570-75152571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75151979..75153510-chr4:75158471..75161433,2	K562	blood:
2	chr4:75022525..75024383-chr4:75151977..75154237,2	MCF-7	breast:
3	chr4:75151591..75155322-chr4:75162703..75165328,4	K562	blood:
4	chr4:75146895..75149004-chr4:75152279..75154592,2	K562	blood:

Variant related genes	Relation type
ENSG00000269559	Chromatin interaction
ENSG00000163738	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	0.97[AFR][1000 genomes];1.00[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	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850842	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850845	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850852	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850933	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850945	0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1993664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56192801	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57516973	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58215609	1.00[EUR][1000 genomes]
rs58398242	1.00[EUR][1000 genomes]
rs59142088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59172186	1.00[EUR][1000 genomes]
rs59175703	1.00[EUR][1000 genomes]
rs60181583	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60560556	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61119489	1.00[EUR][1000 genomes]
rs6830535	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6836879	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs725142	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824458	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824469	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs922136	0.81[AFR][1000 genomes];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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75125200-75158800	Weak transcription	Left Ventricle	heart
2	chr4:75132200-75157800	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:75133800-75160000	Weak transcription	Liver	Liver
4	chr4:75134000-75173800	Weak transcription	Primary T cells from cord blood	blood
5	chr4:75144000-75153200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:75144400-75162000	Weak transcription	Primary B cells from cord blood	blood
7	chr4:75147200-75154200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:75147600-75160400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:75149800-75157200	Weak transcription	HSMMtube	muscle
10	chr4:75149800-75186200	Weak transcription	K562	blood
11	chr4:75150000-75152600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:75150000-75157200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:75150200-75157800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:75151200-75152600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:75151400-75152600	Enhancers	Hela-S3	cervix
16	chr4:75151400-75152600	Enhancers	NHDF-Ad	bronchial
17	chr4:75151400-75152600	Enhancers	Osteobl	bone
18	chr4:75151400-75153600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:75151400-75164600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:75151600-75152600	Enhancers	HSMM	muscle
21	chr4:75151600-75152600	Enhancers	NHEK	skin
22	chr4:75152200-75152600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:75152400-75157600	Weak transcription	HMEC	breast
24	chr4:75152400-75157800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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