Variant report

Variant	rs12444713
Chromosome Location	chr16:31378235-31378236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10782004	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1106398	0.82[ASN][1000 genomes]
rs11150612	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11150617	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11150619	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11574630	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11574639	0.82[ASN][1000 genomes]
rs13332545	0.84[ASN][1000 genomes]
rs2230429	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28372932	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41440449	0.81[EUR][1000 genomes]
rs4889649	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7203472	0.87[ASN][1000 genomes]
rs7501207	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8058882	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9673398	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
8	nsv1059610	chr16:31368699-31421660	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3438651	chr16:31373520-31422007	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31369600-31381200	Weak transcription	Spleen	Spleen
3	chr16:31373400-31381200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:31375400-31381600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:31375600-31379800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:31377000-31378400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr16:31377400-31379800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr16:31377600-31378400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
9	chr16:31377600-31379800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:31377600-31384600	Weak transcription	Lung	lung
11	chr16:31377800-31379800	Enhancers	Primary hematopoietic stem cells	blood
12	chr16:31377800-31379800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:31378000-31380000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr16:31378000-31381000	Enhancers	Primary B cells from cord blood	blood
15	chr16:31378200-31378800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
16	chr16:31378200-31379200	Weak transcription	GM12878-XiMat	blood
17	chr16:31378200-31379600	Enhancers	Primary B cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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