Variant report

Variant	rs28382340
Chromosome Location	chr4:75170510-75170511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75165938..75168481-chr4:75168543..75170706,2	K562	blood:
2	chr4:75169221..75170914-chr4:75178436..75180818,2	K562	blood:
3	chr4:75167983..75171107-chr4:75171545..75173909,3	K562	blood:
4	chr4:75160113..75161742-chr4:75169307..75170869,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10006685	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10011730	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014791	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10015148	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1246576	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246583	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246589	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246592	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246593	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246595	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246596	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1460004	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542468	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850833	0.84[EUR][1000 genomes]
rs16850864	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850866	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850889	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850892	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850899	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850903	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850918	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850939	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611754	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28417935	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28423375	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28434222	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28462312	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588511	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28663170	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28721942	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28788278	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492042	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56667969	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572987	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6821364	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845763	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7656041	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656313	0.90[ASN][1000 genomes]
rs7665228	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7670644	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697394	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9683437	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884572	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9884653	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9992624	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9993008	0.84[EUR][1000 genomes];0.93[ASN][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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75134000-75173800	Weak transcription	Primary T cells from cord blood	blood
2	chr4:75149800-75186200	Weak transcription	K562	blood
3	chr4:75156600-75174200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:75160200-75173800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:75163600-75173200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:75168800-75170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:75169200-75171000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:75169200-75172000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:75169600-75170600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:75169600-75171400	Enhancers	Hela-S3	cervix
11	chr4:75170200-75171000	Enhancers	NHEK	skin

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