Variant report

Variant	rs57299806
Chromosome Location	chr8:19962813-19962814
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	chr8:19956033..19958398-chr8:19960107..19963324,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17092045	1.00[AMR][1000 genomes]
rs17092048	1.00[AMR][1000 genomes]
rs17092129	1.00[AMR][1000 genomes]
rs17092131	1.00[AMR][1000 genomes]
rs17092137	1.00[AMR][1000 genomes]
rs17092173	1.00[AMR][1000 genomes]
rs56343070	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7845217	1.00[AMR][1000 genomes]
rs903995	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19956800-19963400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:19957200-19963200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:19960400-19963000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:19960400-19964600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:19960800-19963800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:19961000-19963000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:19961200-19963000	Weak transcription	HUVEC	blood vessel
8	chr8:19961400-19963000	Weak transcription	Placenta	Placenta
9	chr8:19961800-19963600	Enhancers	Lung	lung
10	chr8:19962000-19963000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:19962000-19963000	Enhancers	Colon Smooth Muscle	Colon
12	chr8:19962000-19963800	Enhancers	Right Atrium	heart
13	chr8:19962200-19963000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:19962200-19963600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:19962200-19965400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:19962600-19963200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:19962600-19964000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:19962600-19964200	Enhancers	NHDF-Ad	bronchial
19	chr8:19962600-19964400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:19962800-19963000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:19962800-19963000	Enhancers	Fetal Lung	lung
22	chr8:19962800-19963200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:19962800-19963600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:19962800-19963600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:19962800-19963600	Enhancers	Aorta	Aorta
26	chr8:19962800-19963600	Enhancers	NHLF	lung
27	chr8:19962800-19963800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:19962800-19963800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:19962800-19963800	Enhancers	Left Ventricle	heart
30	chr8:19962800-19963800	Enhancers	Right Ventricle	heart
31	chr8:19962800-19963800	Enhancers	NH-A	brain
32	chr8:19962800-19963800	Flanking Active TSS	Osteobl	bone
33	chr8:19962800-19964000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:19962800-19964200	Enhancers	Hela-S3	cervix
35	chr8:19962800-19964400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:19962800-19964400	Enhancers	HMEC	breast
37	chr8:19962800-19964600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:19962800-19964600	Enhancers	Adipose Nuclei	Adipose
39	chr8:19962800-19964600	Enhancers	Rectal Smooth Muscle	rectum
40	chr8:19962800-19964600	Enhancers	Skeletal Muscle Male	skeletal muscle

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