Variant report

Variant	rs1485792
Chromosome Location	chr16:77100439-77100440
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11640648	0.84[EUR][1000 genomes]
rs1485793	0.95[ASN][1000 genomes]
rs1843455	0.93[EUR][1000 genomes]
rs1843456	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1843457	0.94[EUR][1000 genomes]
rs1872509	0.93[ASN][1000 genomes]
rs2220233	0.81[ASN][1000 genomes]
rs35848061	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4088757	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61117898	0.90[ASN][1000 genomes]
rs7190129	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7197078	0.94[EUR][1000 genomes]
rs7198870	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7404322	0.84[EUR][1000 genomes]
rs7404856	0.81[EUR][1000 genomes]
rs8045658	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9938028	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063069	chr16:76462850-77214064	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv542963	chr16:76462850-77214064	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2422474	chr16:76544108-77125562	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv906947	chr16:76682263-77160626	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv869201	chr16:76714549-77233646	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1057677	chr16:76861946-77230013	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv906952	chr16:76944357-77155717	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1058017	chr16:76958488-77121870	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv542966	chr16:76958488-77121870	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
17	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1485792	SYCE1L	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77096200-77101400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr16:77097400-77100600	Weak transcription	Fetal Heart	heart
3	chr16:77097400-77104000	Weak transcription	Primary T cells from cord blood	blood
4	chr16:77098400-77100600	Weak transcription	Fetal Stomach	stomach
5	chr16:77098400-77102800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:77098400-77103000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:77098400-77103200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:77098600-77101200	Weak transcription	Fetal Muscle Leg	muscle
9	chr16:77098600-77102800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:77098600-77102800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:77098600-77103000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr16:77098600-77103200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr16:77098600-77103400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr16:77100000-77101800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr16:77100000-77102000	Enhancers	Primary hematopoietic stem cells	blood
16	chr16:77100200-77100600	Enhancers	Primary B cells from peripheral blood	blood
17	chr16:77100200-77100600	Enhancers	Left Ventricle	heart
18	chr16:77100400-77100800	Enhancers	Fetal Lung	lung
19	chr16:77100400-77101600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr16:77100400-77101600	Enhancers	Right Atrium	heart
21	chr16:77100400-77101800	Enhancers	Adipose Nuclei	Adipose

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