Variant report

Variant	rs16843890
Chromosome Location	chr2:210741228-210741229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10174744	1.00[EUR][1000 genomes]
rs10206406	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16843887	1.00[EUR][1000 genomes]
rs16843979	0.87[AMR][1000 genomes]
rs16843983	0.87[AMR][1000 genomes]
rs16843987	0.87[AMR][1000 genomes]
rs16843990	0.87[AMR][1000 genomes]
rs6707821	1.00[EUR][1000 genomes]
rs6725313	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6758085	0.87[AMR][1000 genomes]
rs73076772	0.89[AMR][1000 genomes]
rs73076801	0.89[AMR][1000 genomes]
rs73078916	1.00[EUR][1000 genomes]
rs7562016	0.87[AMR][1000 genomes]
rs7599672	0.94[AFR][1000 genomes];1.00[AMR][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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210682000-210769600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:210733200-210791400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:210735400-210769400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:210737800-210742800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:210737800-210769400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:210737800-210772400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:210739400-210744200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:210739600-210742200	Enhancers	NHEK	skin
9	chr2:210739600-210744200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:210740200-210741400	Enhancers	HMEC	breast
11	chr2:210740200-210741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:210740800-210742000	Enhancers	Fetal Lung	lung
13	chr2:210740800-210742600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:210741200-210742400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:210741200-210743000	Enhancers	Cortex derived primary cultured neurospheres	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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