Variant report

Variant	rs59527347
Chromosome Location	chr4:55804196-55804197
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	chr4:55799949..55802484-chr4:55803090..55804655,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10014134	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026756	1.00[ASN][1000 genomes]
rs11133349	1.00[ASN][1000 genomes]
rs1119544	1.00[ASN][1000 genomes]
rs1119545	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722896	1.00[ASN][1000 genomes]
rs11725129	1.00[ASN][1000 genomes]
rs11732198	1.00[ASN][1000 genomes]
rs11732768	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734032	1.00[ASN][1000 genomes]
rs11737870	1.00[ASN][1000 genomes]
rs12639867	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12639878	0.95[EUR][1000 genomes]
rs12643767	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646789	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646878	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647496	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648485	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648946	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649626	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497480	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497490	1.00[ASN][1000 genomes]
rs1497500	1.00[ASN][1000 genomes]
rs17084864	1.00[ASN][1000 genomes]
rs17084965	1.00[ASN][1000 genomes]
rs17085031	1.00[ASN][1000 genomes]
rs1874651	1.00[ASN][1000 genomes]
rs2088401	1.00[ASN][1000 genomes]
rs28435700	1.00[ASN][1000 genomes]
rs34948390	1.00[ASN][1000 genomes]
rs56288580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59049699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60317592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66857866	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67682137	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68139100	1.00[ASN][1000 genomes]
rs6833710	1.00[ASN][1000 genomes]
rs6851808	1.00[ASN][1000 genomes]
rs73143579	0.96[AFR][1000 genomes]
rs73143580	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234251	1.00[ASN][1000 genomes]
rs73234252	1.00[ASN][1000 genomes]
rs73234255	1.00[ASN][1000 genomes]
rs73234258	1.00[ASN][1000 genomes]
rs73234260	1.00[ASN][1000 genomes]
rs73234262	1.00[ASN][1000 genomes]
rs73234264	1.00[ASN][1000 genomes]
rs73234265	1.00[ASN][1000 genomes]
rs73234268	1.00[ASN][1000 genomes]
rs73234269	1.00[ASN][1000 genomes]
rs73234271	1.00[ASN][1000 genomes]
rs73234272	1.00[ASN][1000 genomes]
rs73234273	1.00[ASN][1000 genomes]
rs73234275	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234276	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663862	1.00[ASN][1000 genomes]
rs7682627	1.00[ASN][1000 genomes]
rs7690257	1.00[ASN][1000 genomes]
rs904130	1.00[ASN][1000 genomes]
rs904132	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904133	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969341	0.81[EUR][1000 genomes];1.00[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	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1010982	chr4:55802123-55808403	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55796800-55810200	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:55801600-55804400	Enhancers	HUVEC	blood vessel
3	chr4:55802600-55807600	Weak transcription	Fetal Stomach	stomach
4	chr4:55802600-55808200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:55803200-55806800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:55803400-55805000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:55803400-55806800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:55803600-55804200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:55803600-55804200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:55803600-55804200	Enhancers	Stomach Mucosa	stomach
11	chr4:55803600-55804400	Enhancers	Fetal Lung	lung
12	chr4:55803600-55804400	Enhancers	K562	blood
13	chr4:55803600-55804600	Enhancers	Primary hematopoietic stem cells	blood
14	chr4:55803600-55804600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:55803600-55804800	Enhancers	Primary T cells from cord blood	blood
16	chr4:55803800-55804400	Enhancers	NH-A	brain
17	chr4:55804000-55804600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:55804000-55805800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:55804000-55808200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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