Variant report

Variant	rs73234272
Chromosome Location	chr4:55776628-55776629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10014134	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026756	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133349	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1119544	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1119545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725129	1.00[ASN][1000 genomes]
rs11732198	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732768	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734032	1.00[ASN][1000 genomes]
rs11737870	1.00[ASN][1000 genomes]
rs12639867	0.81[EUR][1000 genomes]
rs12639878	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12643767	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646789	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646878	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647496	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648485	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648946	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649626	1.00[ASN][1000 genomes]
rs1497480	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497490	1.00[ASN][1000 genomes]
rs1497500	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084864	1.00[ASN][1000 genomes]
rs17084965	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085031	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085085	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874651	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2088401	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435700	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34948390	1.00[ASN][1000 genomes]
rs56288580	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491061	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59049699	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59527347	1.00[ASN][1000 genomes]
rs60317592	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66857866	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67682137	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68139100	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6851808	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143580	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234251	1.00[ASN][1000 genomes]
rs73234252	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234255	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234258	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234260	1.00[ASN][1000 genomes]
rs73234262	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234264	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234265	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234268	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234269	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234275	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234276	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234277	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663862	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682627	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690257	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904132	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904133	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55769600-55780200	Weak transcription	Aorta	Aorta
2	chr4:55771400-55778200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:55774600-55777000	Enhancers	Primary T cells from cord blood	blood
4	chr4:55775200-55776800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:55776200-55776800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr4:55776400-55776800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:55776400-55777000	Enhancers	Fetal Stomach	stomach
8	chr4:55776400-55779200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:55776600-55776800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:55776600-55778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:55776600-55779800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:55776600-55780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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