Variant report

Variant	rs2319385
Chromosome Location	chr14:21182359-21182360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1114967	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11156638	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11846312	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12432982	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2319384	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4448837	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4981326	0.83[ASN][1000 genomes]
rs4982343	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982344	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4982347	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60706777	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7160467	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8004317	0.96[ASN][1000 genomes]
rs8006913	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010445	0.87[ASN][1000 genomes]
rs8020105	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21166400-21182800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:21168000-21194600	Weak transcription	Gastric	stomach
3	chr14:21176000-21182800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:21176400-21187600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:21176800-21182800	Weak transcription	Fetal Lung	lung
6	chr14:21178800-21183800	Enhancers	Stomach Mucosa	stomach
7	chr14:21180000-21184200	Enhancers	Primary B cells from cord blood	blood
8	chr14:21180800-21183400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:21181600-21183000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:21181600-21183000	Weak transcription	Adipose Nuclei	Adipose
11	chr14:21181800-21182800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:21181800-21182800	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:21181800-21183000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:21182000-21183000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr14:21182200-21183400	Enhancers	Pancreas	Pancrea
16	chr14:21182200-21185600	Enhancers	Primary monocytes 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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