Variant report

Variant	rs4806514
Chromosome Location	chr19:54329140-54329141
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11671984	0.93[ASN][1000 genomes]
rs4539722	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4806513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7257867	0.87[ASN][1000 genomes]
rs7258592	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
2	nsv1061889	chr19:54024352-54340923	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	221 gene(s)	inside rSNPs	diseases
3	nsv531307	chr19:54056296-54402720	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	244 gene(s)	inside rSNPs	diseases
4	nsv1064208	chr19:54103646-54528887	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	309 gene(s)	inside rSNPs	diseases
5	nsv1058096	chr19:54164595-54374895	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	236 gene(s)	inside rSNPs	diseases
6	nsv912387	chr19:54175037-54330232	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	176 gene(s)	inside rSNPs	diseases
7	nsv1065337	chr19:54213042-54391859	Active TSS Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	202 gene(s)	inside rSNPs	diseases
8	nsv1064317	chr19:54238294-54465245	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	183 gene(s)	inside rSNPs	diseases
9	nsv544073	chr19:54238294-54465245	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	183 gene(s)	inside rSNPs	diseases
10	esv2753726	chr19:54256988-55204403	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	325 gene(s)	inside rSNPs	diseases
11	nsv1064558	chr19:54276722-54460745	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	153 gene(s)	inside rSNPs	diseases
12	nsv912388	chr19:54294482-54367597	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv544074	chr19:54325041-54366732	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:54327600-54332200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:54327600-54332800	Weak transcription	Spleen	Spleen
3	chr19:54327600-54333000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:54327600-54334000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:54327600-54335000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:54327800-54332000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:54327800-54332000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr19:54327800-54333400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:54327800-54333400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:54327800-54334800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:54328600-54329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:54328600-54329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:54328600-54330000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr19:54328600-54331800	Weak transcription	Primary B cells from cord blood	blood
15	chr19:54328600-54332000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:54328600-54332400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr19:54328800-54329800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr19:54329000-54330000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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