Variant report

Variant	rs73612194
Chromosome Location	chr8:19920850-19920851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19917481..19922077-chr8:19926619..19931502,5	K562	blood:
2	chr8:19916571..19918771-chr8:19920121..19921911,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11989335	1.00[AMR][1000 genomes]
rs12115034	1.00[AMR][1000 genomes]
rs262	1.00[AMR][1000 genomes]
rs56952689	1.00[AMR][1000 genomes]
rs57996813	1.00[AMR][1000 genomes]
rs58645035	1.00[AMR][1000 genomes]
rs59808638	1.00[AMR][1000 genomes]
rs60424506	1.00[AMR][1000 genomes]
rs60929355	1.00[AMR][1000 genomes]
rs61274012	1.00[AMR][1000 genomes]
rs7001486	1.00[AMR][1000 genomes]
rs73599687	1.00[AMR][1000 genomes]
rs73600088	1.00[AMR][1000 genomes]
rs73601683	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73602327	1.00[AMR][1000 genomes]
rs73602336	1.00[AMR][1000 genomes]
rs73602337	1.00[AMR][1000 genomes]
rs73602344	1.00[AMR][1000 genomes]
rs73606088	1.00[AMR][1000 genomes]
rs73606089	1.00[AMR][1000 genomes]
rs73608005	1.00[AMR][1000 genomes]
rs73612187	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612198	1.00[AMR][1000 genomes]
rs73612199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73614229	1.00[AMR][1000 genomes]
rs73614265	1.00[AMR][1000 genomes]
rs7819964	1.00[AMR][1000 genomes]
rs7825694	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19914800-19928200	Weak transcription	K562	blood
2	chr8:19919200-19921400	Enhancers	Hela-S3	cervix
3	chr8:19919400-19921200	Enhancers	Adipose Nuclei	Adipose
4	chr8:19919400-19921600	Enhancers	Stomach Smooth Muscle	stomach
5	chr8:19919600-19921000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:19919600-19921000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:19919600-19921200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:19919600-19921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:19919600-19921600	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:19919600-19931600	Weak transcription	Lung	lung
11	chr8:19919800-19921200	Enhancers	Colon Smooth Muscle	Colon
12	chr8:19919800-19921600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:19919800-19921800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr8:19920400-19921200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:19920400-19921200	Enhancers	Aorta	Aorta
16	chr8:19920400-19921200	Flanking Active TSS	Fetal Lung	lung
17	chr8:19920400-19921400	Enhancers	Fetal Muscle Leg	muscle
18	chr8:19920400-19921600	Enhancers	Psoas Muscle	Psoas
19	chr8:19920600-19921000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:19920600-19921000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:19920600-19921000	Enhancers	Right Ventricle	heart
22	chr8:19920600-19921200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:19920600-19921600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:19920600-19922000	Enhancers	Fetal Heart	heart
25	chr8:19920800-19921000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:19920800-19921000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:19920800-19921000	Enhancers	Ovary	ovary
28	chr8:19920800-19921000	Bivalent Enhancer	NHDF-Ad	bronchial
29	chr8:19920800-19921400	Enhancers	Right Atrium	heart
30	chr8:19920800-19921600	Enhancers	Left Ventricle	heart

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