Variant report

Variant	rs16932554
Chromosome Location	chr8:67049255-67049256
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	chr8:67044508..67046368-chr8:67048019..67049856,2	K562	blood:
2	chr8:67041475..67043623-chr8:67049096..67052044,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16932544	0.94[YRI][hapmap]
rs16932561	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6472253	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249993	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250000	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693918	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7834526	0.88[AFR][1000 genomes];0.87[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67040200-67050000	Enhancers	Adipose Nuclei	Adipose
2	chr8:67042600-67069200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:67044000-67057800	Weak transcription	Liver	Liver
4	chr8:67044200-67049800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:67045400-67049400	Weak transcription	Psoas Muscle	Psoas
6	chr8:67045600-67049400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:67046000-67049400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:67046200-67049600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:67046600-67051200	Weak transcription	A549	lung
10	chr8:67046800-67049400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:67047000-67052000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:67047200-67049600	Genic enhancers	Fetal Muscle Leg	muscle
13	chr8:67047200-67050400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:67047600-67049800	Weak transcription	Lung	lung
15	chr8:67047600-67050200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:67047600-67055000	Genic enhancers	HSMMtube	muscle
17	chr8:67047800-67049800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
18	chr8:67047800-67050400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:67048000-67049400	Weak transcription	Left Ventricle	heart
20	chr8:67048000-67049400	Weak transcription	Right Ventricle	heart
21	chr8:67048000-67050200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:67048400-67050400	Genic enhancers	HSMM	muscle
23	chr8:67048600-67049400	Genic enhancers	Fetal Heart	heart
24	chr8:67048600-67050800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:67048800-67049800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr8:67048800-67053000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:67049000-67050600	Enhancers	NHDF-Ad	bronchial
28	chr8:67049000-67052000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:67049000-67052800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:67049200-67049400	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr8:67049200-67049600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:67049200-67049800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:67049200-67049800	Enhancers	Right Atrium	heart
34	chr8:67049200-67049800	Enhancers	HMEC	breast
35	chr8:67049200-67049800	Enhancers	NHEK	skin
36	chr8:67049200-67050000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:67049200-67050400	Enhancers	NH-A	brain
38	chr8:67049200-67050400	Enhancers	NHLF	lung
39	chr8:67049200-67050400	Enhancers	Osteobl	bone

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