Variant report

Variant	rs7716469
Chromosome Location	chr5:146829590-146829591
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	chr5:146813910..146815673-chr5:146829270..146831419,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12657083	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12657176	0.90[AFR][1000 genomes]
rs17106743	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17106761	0.92[AFR][1000 genomes]
rs17106765	0.89[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57782659	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58633172	0.87[AFR][1000 genomes]
rs73794725	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794726	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794728	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794730	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794763	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
3	chr5:146817200-146830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:146817200-146831800	Weak transcription	Esophagus	oesophagus
5	chr5:146819200-146831600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:146819200-146831600	Weak transcription	Spleen	Spleen
7	chr5:146823200-146831800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:146824600-146830800	Enhancers	Ovary	ovary
9	chr5:146826600-146830000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:146826600-146830800	Weak transcription	Aorta	Aorta
11	chr5:146826600-146830800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:146826600-146830800	Weak transcription	Left Ventricle	heart
13	chr5:146826600-146830800	Weak transcription	Right Atrium	heart
14	chr5:146826600-146830800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:146826600-146831000	Weak transcription	Adipose Nuclei	Adipose
16	chr5:146826600-146831000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:146826600-146831800	Weak transcription	Lung	lung
18	chr5:146826600-146832000	Weak transcription	Fetal Heart	heart
19	chr5:146826600-146832000	Weak transcription	Psoas Muscle	Psoas
20	chr5:146826800-146830800	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:146827000-146829800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:146827000-146829800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:146827000-146831600	Weak transcription	Brain Substantia Nigra	brain
24	chr5:146827400-146830000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:146827800-146830800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr5:146828000-146830200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr5:146828000-146830800	Enhancers	Rectal Smooth Muscle	rectum
28	chr5:146828000-146831400	Enhancers	Colon Smooth Muscle	Colon
29	chr5:146828200-146829600	Enhancers	Fetal Stomach	stomach
30	chr5:146828200-146829800	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr5:146828200-146830000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:146828200-146830400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:146828200-146831000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:146828200-146831200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:146828400-146830000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:146828400-146830600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr5:146828600-146830800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:146828600-146831600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:146828800-146830200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr5:146828800-146830400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr5:146829000-146829800	Flanking Active TSS	Fetal Brain Female	brain
42	chr5:146829000-146831000	Weak transcription	NHLF	lung
43	chr5:146829000-146831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:146829200-146830000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:146829200-146830000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
46	chr5:146829200-146830200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:146829200-146830400	Flanking Active TSS	Fetal Brain Male	brain
48	chr5:146829200-146831000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:146829200-146831600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:146829200-146832000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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