Variant report

Variant	rs8063240
Chromosome Location	chr16:65153430-65153431
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11860520	0.86[AFR][1000 genomes]
rs6498978	0.86[AFR][1000 genomes]
rs6498979	0.86[AFR][1000 genomes]
rs7192332	0.86[AFR][1000 genomes]
rs8060978	0.86[AFR][1000 genomes]
rs8064042	0.86[AFR][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	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv34131	chr16:65137094-65379496	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65144600-65154000	Weak transcription	Spleen	Spleen
2	chr16:65150000-65153600	Enhancers	Rectal Smooth Muscle	rectum
3	chr16:65150600-65153800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr16:65151200-65154400	Active TSS	Fetal Brain Female	brain
5	chr16:65151400-65153800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr16:65151600-65153800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:65151600-65153800	Enhancers	Fetal Muscle Leg	muscle
8	chr16:65151800-65154600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr16:65151800-65155000	Flanking Active TSS	HUVEC	blood vessel
10	chr16:65152000-65153600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:65152000-65153800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:65152000-65153800	Weak transcription	Aorta	Aorta
13	chr16:65152000-65153800	Enhancers	Brain Hippocampus Middle	brain
14	chr16:65152000-65153800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:65152000-65153800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:65152000-65154000	Active TSS	Brain Germinal Matrix	brain
17	chr16:65152000-65154000	Enhancers	Brain Substantia Nigra	brain
18	chr16:65152000-65154000	Weak transcription	Fetal Heart	heart
19	chr16:65152000-65159400	Active TSS	Ovary	ovary
20	chr16:65152200-65153600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:65152200-65153600	Weak transcription	Esophagus	oesophagus
22	chr16:65152200-65154000	Active TSS	Fetal Kidney	kidney
23	chr16:65152400-65153800	Weak transcription	Adipose Nuclei	Adipose
24	chr16:65152400-65153800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr16:65152400-65155800	Active TSS	Fetal Brain Male	brain
26	chr16:65152600-65153800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:65152600-65153800	Flanking Active TSS	Osteobl	bone
28	chr16:65152800-65153800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr16:65152800-65154000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:65153000-65153600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:65153000-65153600	Flanking Active TSS	HSMMtube	muscle
32	chr16:65153000-65154600	Active TSS	Placenta	Placenta
33	chr16:65153000-65154800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
34	chr16:65153000-65155600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:65153200-65153600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:65153200-65153600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:65153200-65153600	Active TSS	Brain Anterior Caudate	brain
38	chr16:65153200-65153800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr16:65153200-65154000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:65153200-65154000	Weak transcription	Colon Smooth Muscle	Colon
41	chr16:65153200-65154600	Active TSS	Fetal Stomach	stomach
42	chr16:65153200-65156400	Active TSS	Stomach Smooth Muscle	stomach
43	chr16:65153200-65156600	Active TSS	NH-A	brain
44	chr16:65153200-65157800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:65153200-65158600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:65153200-65158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:65153400-65153600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr16:65153400-65153600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:65153400-65153600	Flanking Active TSS	HSMM	muscle
50	chr16:65153400-65153600	Flanking Active TSS	NHDF-Ad	bronchial

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