Variant report

Variant	rs6983094
Chromosome Location	chr8:19970148-19970149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17092019	1.00[AMR][1000 genomes]
rs17092020	1.00[AMR][1000 genomes]
rs17092022	1.00[AMR][1000 genomes]
rs17092031	1.00[AMR][1000 genomes]
rs73669710	1.00[AMR][1000 genomes]
rs73669711	1.00[AMR][1000 genomes]
rs73669713	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1033931	chr8:19954428-19979303	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv525841	chr8:19957089-19970889	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19963600-19971200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:19963800-19971000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:19963800-19972200	Weak transcription	Right Ventricle	heart
4	chr8:19964400-19971200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:19968200-19971600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:19968200-19971600	Enhancers	Placenta	Placenta
7	chr8:19969000-19971600	Enhancers	Fetal Lung	lung
8	chr8:19969200-19976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:19969400-19970200	Enhancers	Fetal Heart	heart
10	chr8:19969400-19970400	Enhancers	Left Ventricle	heart
11	chr8:19969600-19971200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:19969600-19971400	Enhancers	Psoas Muscle	Psoas
13	chr8:19969800-19971000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:19969800-19971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:19969800-19971200	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:19969800-19975000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:19969800-19976800	Weak transcription	Hela-S3	cervix
18	chr8:19970000-19970400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:19970000-19970800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:19970000-19971400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:19970000-19971600	Enhancers	Adipose Nuclei	Adipose
22	chr8:19970000-19977400	Weak transcription	Right Atrium	heart

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