Variant report

Variant	rs17006419
Chromosome Location	chr3:69816117-69816118
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	chr3:69808353..69811258-chr3:69813608..69817584,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12714757	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17043851	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2114660	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4605553	0.80[ASN][1000 genomes]
rs4855323	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4855447	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55921103	0.88[ASN][1000 genomes]
rs55947901	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56286049	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56386221	0.82[AMR][1000 genomes]
rs57078287	0.82[AMR][1000 genomes]
rs57537586	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58244283	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58529025	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60551165	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60843510	0.82[AMR][1000 genomes]
rs62250970	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62250976	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62250977	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62250978	0.93[EUR][1000 genomes]
rs6772383	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69806200-69818000	Enhancers	Fetal Heart	heart
2	chr3:69811800-69819800	Weak transcription	Fetal Lung	lung
3	chr3:69812800-69817400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:69812800-69819600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:69813000-69816800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:69813000-69816800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:69813000-69817400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:69813200-69816800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:69814000-69823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:69814200-69816800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:69814200-69816800	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:69814200-69819200	Enhancers	Rectal Smooth Muscle	rectum
13	chr3:69814400-69816800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:69814400-69816800	Weak transcription	Brain Anterior Caudate	brain
15	chr3:69814400-69816800	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:69814400-69816800	Weak transcription	HMEC	breast
17	chr3:69814400-69818600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:69814400-69818800	Weak transcription	HUVEC	blood vessel
19	chr3:69814400-69818800	Weak transcription	NH-A	brain
20	chr3:69814400-69819000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:69814400-69819200	Weak transcription	Osteobl	bone
22	chr3:69814400-69819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:69814400-69819800	Weak transcription	NHLF	lung
24	chr3:69814400-69820000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:69814400-69823400	Weak transcription	Brain Angular Gyrus	brain
26	chr3:69814400-69823800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:69814400-69834000	Weak transcription	Right Ventricle	heart
28	chr3:69814600-69818800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:69814600-69819400	Weak transcription	HSMMtube	muscle
30	chr3:69814600-69821000	Weak transcription	Fetal Kidney	kidney
31	chr3:69814600-69824400	Enhancers	Colon Smooth Muscle	Colon
32	chr3:69815000-69816800	Weak transcription	Adipose Nuclei	Adipose
33	chr3:69815000-69816800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:69815000-69817200	Weak transcription	Hela-S3	cervix
35	chr3:69815000-69817600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:69815000-69819000	Weak transcription	HSMM	muscle
37	chr3:69815000-69819200	Enhancers	A549	lung
38	chr3:69815200-69816800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:69815200-69816800	Enhancers	Brain Cingulate Gyrus	brain
40	chr3:69815400-69819000	Enhancers	Ovary	ovary
41	chr3:69815600-69816200	Enhancers	Psoas Muscle	Psoas
42	chr3:69815600-69816200	Enhancers	NHDF-Ad	bronchial
43	chr3:69815600-69821200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:69815800-69816200	Enhancers	K562	blood
45	chr3:69815800-69816400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:69815800-69816800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:69815800-69817200	Enhancers	Left Ventricle	heart
48	chr3:69815800-69817600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:69815800-69817600	Enhancers	Brain Hippocampus Middle	brain
50	chr3:69815800-69817600	Enhancers	Duodenum Smooth Muscle	Duodenum

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