Variant report

Variant	rs56286049
Chromosome Location	chr3:69824230-69824231
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69771834..69774322-chr3:69822965..69825784,2	K562	blood:
2	chr3:69824164..69825783-chr3:69833410..69835761,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12714757	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17006419	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17043851	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2114660	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4855323	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4855447	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55947901	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57537586	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58244283	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58529025	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60551165	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62250970	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62250976	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62250977	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62250978	0.93[EUR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69814400-69834000	Weak transcription	Right Ventricle	heart
2	chr3:69814600-69824400	Enhancers	Colon Smooth Muscle	Colon
3	chr3:69819400-69824600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr3:69819400-69827200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr3:69819600-69825800	Enhancers	Rectal Smooth Muscle	rectum
6	chr3:69820000-69824600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:69820800-69825800	Weak transcription	Osteobl	bone
8	chr3:69820800-69826000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:69821000-69825800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:69821200-69825600	Weak transcription	HUVEC	blood vessel
11	chr3:69821200-69834000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:69821800-69824400	Enhancers	Ovary	ovary
13	chr3:69821800-69826400	Enhancers	K562	blood
14	chr3:69821800-69826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:69822000-69825600	Weak transcription	NHDF-Ad	bronchial
16	chr3:69822400-69825400	Weak transcription	NHLF	lung
17	chr3:69822400-69830800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:69822400-69834400	Weak transcription	Gastric	stomach
19	chr3:69822800-69825800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:69823000-69824400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:69823200-69825600	Enhancers	Brain Substantia Nigra	brain
22	chr3:69823400-69827400	Enhancers	Fetal Heart	heart
23	chr3:69823400-69830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:69823600-69833600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:69823800-69824600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:69823800-69825200	Weak transcription	Aorta	Aorta
27	chr3:69823800-69825400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:69823800-69825400	Enhancers	Brain Cingulate Gyrus	brain
29	chr3:69824000-69825000	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:69824000-69825400	Weak transcription	Adipose Nuclei	Adipose
31	chr3:69824000-69827000	Weak transcription	Brain Anterior Caudate	brain
32	chr3:69824000-69834000	Weak transcription	Right Atrium	heart
33	chr3:69824000-69834400	Weak transcription	Brain Angular Gyrus	brain
34	chr3:69824000-69837000	Weak transcription	Lung	lung
35	chr3:69824200-69826600	Weak transcription	Psoas Muscle	Psoas
36	chr3:69824200-69829000	Weak transcription	Left Ventricle	heart

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