Variant report

Variant	rs62309333
Chromosome Location	chr4:48199290-48199291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48175263..48177129-chr4:48197621..48199593,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1355219	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1355220	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1396877	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17655303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912163	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1912164	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2055803	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2457417	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2664026	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2664036	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2664039	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704408	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704414	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4695361	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55885170	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56156164	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56363516	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56381082	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62309349	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6834565	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
3	chr4:48195000-48208200	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:48195200-48199400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:48196200-48200000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:48196200-48207200	Weak transcription	Lung	lung
7	chr4:48198000-48199400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr4:48198000-48199800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:48198000-48200000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:48198000-48203000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:48198200-48199400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:48198200-48203600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:48198200-48207200	Weak transcription	Pancreas	Pancrea
14	chr4:48198400-48199600	Weak transcription	Stomach Mucosa	stomach
15	chr4:48198600-48199800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:48198800-48200200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:48198800-48201400	Enhancers	Primary hematopoietic stem cells	blood
18	chr4:48199000-48200600	Flanking Active TSS	GM12878-XiMat	blood
19	chr4:48199000-48200600	Flanking Active TSS	K562	blood
20	chr4:48199000-48205400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:48199200-48199400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:48199200-48199800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:48199200-48199800	Enhancers	Fetal Heart	heart
24	chr4:48199200-48200200	Enhancers	Primary B cells from cord blood	blood
25	chr4:48199200-48200400	Enhancers	Left Ventricle	heart

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