Variant report

Variant	rs10218614
Chromosome Location	chr1:172042019-172042020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12562275	0.82[ASN][1000 genomes]
rs12568081	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568723	0.82[ASN][1000 genomes]
rs16843769	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843775	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843777	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843801	0.82[ASN][1000 genomes]
rs16843816	0.82[ASN][1000 genomes]
rs16843819	0.82[ASN][1000 genomes]
rs3924561	0.82[ASN][1000 genomes]
rs4916417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916419	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916420	0.82[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172010600-172051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:172015000-172042600	Weak transcription	Fetal Brain Female	brain
3	chr1:172038200-172055400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:172038200-172058800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:172040600-172076600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:172041000-172054000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:172041200-172060800	Weak transcription	Brain Substantia Nigra	brain
8	chr1:172041400-172052000	Weak transcription	HMEC	breast
9	chr1:172041400-172061600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:172041600-172061800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:172041800-172042800	Weak transcription	Ovary	ovary
12	chr1:172041800-172052000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:172041800-172061200	Weak transcription	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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