Variant report

Variant	rs16947663
Chromosome Location	chr12:117955801-117955802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11068523	1.00[ASN][1000 genomes]
rs12306876	0.88[ASN][1000 genomes]
rs16947644	0.82[ASN][1000 genomes]
rs55698241	1.00[ASN][1000 genomes]
rs55974696	0.88[ASN][1000 genomes]
rs56005605	0.88[ASN][1000 genomes]
rs56064940	0.88[ASN][1000 genomes]
rs59673657	0.88[ASN][1000 genomes]
rs61573358	0.81[ASN][1000 genomes]
rs7304665	0.88[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	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1045538	chr12:117929400-117963331	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117940200-117978600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117951600-117956400	Weak transcription	Right Atrium	heart
3	chr12:117951600-117956600	Weak transcription	Gastric	stomach
4	chr12:117952000-117956600	Weak transcription	Psoas Muscle	Psoas
5	chr12:117952200-117956600	Weak transcription	Pancreas	Pancrea
6	chr12:117952800-117956000	Weak transcription	Liver	Liver
7	chr12:117953000-117962200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:117953000-117995600	Weak transcription	Brain Angular Gyrus	brain
9	chr12:117953200-117956400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:117953600-117956800	Weak transcription	HUVEC	blood vessel
11	chr12:117953800-117962000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:117954200-117966000	Weak transcription	Left Ventricle	heart
13	chr12:117955600-117956000	Enhancers	Brain Germinal Matrix	brain
14	chr12:117955800-117956000	Enhancers	Fetal Heart	heart
15	chr12:117955800-117956000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
16	chr12:117955800-117956200	Bivalent Enhancer	Fetal Brain Male	brain
17	chr12:117955800-117956400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:117955800-117956600	Enhancers	Primary neutrophils fromperipheralblood	blood

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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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