Variant report

Variant	rs73693914
Chromosome Location	chr8:67047981-67047982
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	chr8:67046137..67048325-chr8:67052622..67055145,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10216874	1.00[AMR][1000 genomes]
rs73691284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691302	1.00[AFR][1000 genomes];1.00[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67039000-67048800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:67040200-67050000	Enhancers	Adipose Nuclei	Adipose
3	chr8:67042600-67069200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:67044000-67049200	Weak transcription	Right Atrium	heart
5	chr8:67044000-67057800	Weak transcription	Liver	Liver
6	chr8:67044200-67049800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:67045400-67049400	Weak transcription	Psoas Muscle	Psoas
8	chr8:67045600-67049200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:67045600-67049400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:67045800-67049200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:67046000-67049000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:67046000-67049200	Weak transcription	HMEC	breast
13	chr8:67046000-67049200	Weak transcription	NHEK	skin
14	chr8:67046000-67049400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:67046200-67049200	Weak transcription	NH-A	brain
16	chr8:67046200-67049600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:67046400-67049000	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr8:67046400-67049200	Weak transcription	NHLF	lung
19	chr8:67046600-67051200	Weak transcription	A549	lung
20	chr8:67046800-67049200	Weak transcription	Osteobl	bone
21	chr8:67046800-67049400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:67047000-67048000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:67047000-67048400	Weak transcription	NHDF-Ad	bronchial
24	chr8:67047000-67049000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:67047000-67049200	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:67047000-67052000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:67047200-67048000	Strong transcription	Left Ventricle	heart
28	chr8:67047200-67048000	Genic enhancers	Right Ventricle	heart
29	chr8:67047200-67049600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr8:67047200-67050400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:67047400-67048400	Strong transcription	HSMM	muscle
32	chr8:67047400-67048800	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr8:67047600-67048200	Genic enhancers	Fetal Heart	heart
34	chr8:67047600-67049800	Weak transcription	Lung	lung
35	chr8:67047600-67050200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:67047600-67055000	Genic enhancers	HSMMtube	muscle
37	chr8:67047800-67049800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:67047800-67050400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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