Variant report

Variant	rs58244283
Chromosome Location	chr3:69827001-69827002
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69785154..69786856-chr3:69826242..69828364,2	K562	blood:
2	chr3:69826342..69828033-chr3:69835897..69837657,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11128143	0.83[ASN][1000 genomes]
rs12714757	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1367369	0.82[ASN][1000 genomes]
rs17006419	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17043851	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2114660	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2116000	0.81[ASN][1000 genomes]
rs28378222	0.82[ASN][1000 genomes]
rs28613540	0.82[ASN][1000 genomes]
rs4855323	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4855447	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4855448	0.83[ASN][1000 genomes]
rs55947901	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56286049	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56386221	0.84[AMR][1000 genomes]
rs57078287	0.84[AMR][1000 genomes]
rs57537586	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58529025	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60551165	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60843510	0.84[AMR][1000 genomes]
rs62250970	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62250976	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62250977	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62250978	0.94[EUR][1000 genomes]
rs6762369	0.82[ASN][1000 genomes]
rs6772383	0.84[AMR][1000 genomes]
rs6786207	0.82[ASN][1000 genomes]
rs6786226	0.82[ASN][1000 genomes]
rs7648607	0.82[ASN][1000 genomes]
rs9834743	0.81[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	esv3507784	chr3:69802539-69959607	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3507785	chr3:69802539-69959607	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1009045	chr3:69821621-69875782	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69814400-69834000	Weak transcription	Right Ventricle	heart
2	chr3:69819400-69827200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr3:69821200-69834000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:69822400-69830800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:69822400-69834400	Weak transcription	Gastric	stomach
6	chr3:69823400-69827400	Enhancers	Fetal Heart	heart
7	chr3:69823400-69830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:69823600-69833600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:69824000-69834000	Weak transcription	Right Atrium	heart
10	chr3:69824000-69834400	Weak transcription	Brain Angular Gyrus	brain
11	chr3:69824000-69837000	Weak transcription	Lung	lung
12	chr3:69824200-69829000	Weak transcription	Left Ventricle	heart
13	chr3:69824600-69830800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:69824600-69834400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:69824800-69827200	Enhancers	Colon Smooth Muscle	Colon
16	chr3:69825200-69827400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr3:69825400-69827800	Enhancers	Adipose Nuclei	Adipose
18	chr3:69825400-69829600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:69825800-69833200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:69825800-69833200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:69825800-69834000	Weak transcription	Aorta	Aorta
22	chr3:69826400-69827200	Flanking Active TSS	K562	blood
23	chr3:69826600-69827200	Enhancers	Brain Cingulate Gyrus	brain
24	chr3:69826600-69827200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr3:69826600-69827400	Enhancers	Psoas Muscle	Psoas
26	chr3:69826800-69827400	Enhancers	Brain Hippocampus Middle	brain
27	chr3:69826800-69827400	Enhancers	Brain Substantia Nigra	brain
28	chr3:69826800-69827400	Enhancers	Ovary	ovary
29	chr3:69826800-69827800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr3:69826800-69833200	Weak transcription	NHLF	lung
31	chr3:69827000-69827200	Enhancers	Brain Anterior Caudate	brain

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