Variant report

Variant	rs28685601
Chromosome Location	chr17:67055765-67055766
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	chr17:67054448..67056090-chr17:67057770..67060664,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28413007	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28558647	1.00[AMR][1000 genomes]
rs7208425	1.00[AMR][1000 genomes]
rs9900433	1.00[AMR][1000 genomes]
rs9906097	1.00[AMR][1000 genomes]
rs9906195	1.00[AMR][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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr17:67044400-67057200	Weak transcription	Fetal Lung	lung
3	chr17:67046200-67057000	Weak transcription	HUVEC	blood vessel
4	chr17:67048400-67057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:67053800-67057000	Weak transcription	Stomach Mucosa	stomach
6	chr17:67053800-67066800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr17:67055000-67056200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:67055000-67056200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr17:67055200-67055800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:67055200-67056200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:67055200-67056200	Flanking Active TSS	Ovary	ovary
12	chr17:67055200-67056400	Active TSS	Right Atrium	heart
13	chr17:67055200-67056400	Flanking Active TSS	NHDF-Ad	bronchial
14	chr17:67055400-67055800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:67055400-67056000	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr17:67055400-67056200	Active TSS	Stomach Smooth Muscle	stomach
17	chr17:67055400-67057200	Enhancers	Fetal Kidney	kidney
18	chr17:67055400-67058000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr17:67055400-67058000	Enhancers	Brain Substantia Nigra	brain
20	chr17:67055600-67055800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:67055600-67055800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:67055600-67055800	Enhancers	Brain Hippocampus Middle	brain
23	chr17:67055600-67056000	Active TSS	Rectal Smooth Muscle	rectum
24	chr17:67055600-67056200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:67055600-67056200	Active TSS	Left Ventricle	heart
26	chr17:67055600-67056200	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr17:67055600-67056200	Flanking Active TSS	Osteobl	bone
28	chr17:67055600-67056400	Enhancers	Brain Angular Gyrus	brain
29	chr17:67055600-67057800	Enhancers	Brain Germinal Matrix	brain
30	chr17:67055600-67058000	Enhancers	Brain Anterior Caudate	brain

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