Variant report

Variant	rs2664039
Chromosome Location	chr4:48216639-48216640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48211265..48214247-chr4:48216270..48217913,2	K562	blood:
2	chr4:48214281..48216760-chr4:48261228..48263562,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1355219	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355220	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655303	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1912163	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912164	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055803	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457417	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664026	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2664036	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704408	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3062075	0.83[ASN][1000 genomes]
rs4695361	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55885170	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56156164	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56363516	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381082	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309333	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62309349	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834565	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48204400-48225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:48207400-48227800	Weak transcription	Esophagus	oesophagus
4	chr4:48214800-48217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:48214800-48218800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:48214800-48221800	Weak transcription	Thymus	Thymus
7	chr4:48214800-48231200	Weak transcription	Liver	Liver
8	chr4:48215000-48220000	Weak transcription	Primary B cells from cord blood	blood
9	chr4:48215000-48220400	Weak transcription	K562	blood
10	chr4:48215000-48228200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr4:48215200-48219200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:48215200-48222200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:48215600-48232400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:48216400-48218400	Weak transcription	Primary hematopoietic stem cells	blood

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