Variant report

Variant	rs4916416
Chromosome Location	chr1:172023570-172023571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10218579	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12061795	0.86[EUR][1000 genomes]
rs4916418	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58503720	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][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	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	nsv3532	chr1:171997451-172042351	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172006400-172025600	Weak transcription	Adipose Nuclei	Adipose
2	chr1:172010600-172051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:172010800-172037600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:172011400-172037800	Weak transcription	Ovary	ovary
5	chr1:172014000-172023800	Weak transcription	Primary T cells from cord blood	blood
6	chr1:172014200-172024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:172014600-172024400	Weak transcription	Brain Germinal Matrix	brain
8	chr1:172015000-172024200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:172015000-172033200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:172015000-172042600	Weak transcription	Fetal Brain Female	brain
11	chr1:172015200-172026000	Weak transcription	Aorta	Aorta
12	chr1:172015200-172032400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:172016600-172037800	Weak transcription	Brain Substantia Nigra	brain
14	chr1:172019000-172024200	Weak transcription	Brain Anterior Caudate	brain
15	chr1:172020200-172024400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:172020200-172038800	Weak transcription	Brain Angular Gyrus	brain
17	chr1:172020200-172040600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:172021400-172024200	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:172021400-172026600	Weak transcription	Left Ventricle	heart
20	chr1:172022400-172023600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:172022800-172023600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:172023400-172024600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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