Variant report

Variant	rs1016815
Chromosome Location	chr1:175428957-175428958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10912985	0.80[EUR][1000 genomes]
rs6681506	0.82[EUR][1000 genomes]
rs859371	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs859374	0.90[ASN][1000 genomes]
rs859375	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs859376	0.83[AMR][1000 genomes];0.95[ASN][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	esv2764232	chr1:175387997-175504394	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1792278	chr1:175404515-175429913	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3333604	chr1:175426729-175429727	Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
4	nsv999586	chr1:175428957-175765789	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175425400-175429200	Weak transcription	Pancreas	Pancrea
2	chr1:175428200-175429400	Enhancers	Fetal Brain Female	brain
3	chr1:175428200-175429800	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:175428200-175432200	Enhancers	Fetal Brain Male	brain
5	chr1:175428400-175429600	Enhancers	Brain Hippocampus Middle	brain
6	chr1:175428600-175429200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:175428600-175429200	Enhancers	Brain Substantia Nigra	brain
8	chr1:175428800-175429000	Enhancers	Brain Anterior Caudate	brain
9	chr1:175428800-175429600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:175428800-175429600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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