Variant report

Variant	rs550084761
Chromosome Location	chr8:19975341-19975342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1B2-2	chr8:19975146-19975953	ENSG00000253775.1

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	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
7	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
8	nsv8311	chr8:19975043-19980924	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19969200-19976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:19969800-19976800	Weak transcription	Hela-S3	cervix
3	chr8:19970000-19977400	Weak transcription	Right Atrium	heart
4	chr8:19970400-19976800	Weak transcription	Left Ventricle	heart
5	chr8:19971400-19976800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:19971400-19976800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:19971400-19976800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:19971400-19977400	Weak transcription	Psoas Muscle	Psoas
9	chr8:19971600-19977800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:19972200-19977400	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:19972600-19977000	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:19973000-19976600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:19973200-19976200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:19973200-19976800	Weak transcription	Adipose Nuclei	Adipose
15	chr8:19973200-19977400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:19973400-19976800	Weak transcription	HUVEC	blood vessel
17	chr8:19974200-19979200	Enhancers	Placenta	Placenta
18	chr8:19974600-19975600	Enhancers	HMEC	breast
19	chr8:19975000-19975600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:19975000-19975800	Enhancers	NHEK	skin

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