Variant report

Variant	rs62143198
Chromosome Location	chr19:54320939-54320940
allele	A/G
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:8)

rs_ID	r²[population]
rs10418046	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10424405	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34436714	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4632248	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62143194	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62143196	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62143197	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62143206	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[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	nsv1062536	chr19:54181498-54322182	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	170 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:54289600-54323000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr19:54293600-54321000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:54293600-54323400	Weak transcription	Right Atrium	heart
4	chr19:54294800-54322000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:54296000-54322000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr19:54296000-54323000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr19:54302000-54327200	Weak transcription	Lung	lung
8	chr19:54313800-54327000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:54314000-54327400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:54314400-54327000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:54314600-54327000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:54314600-54327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:54318400-54321200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:54318400-54327000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr19:54318400-54327000	Weak transcription	Spleen	Spleen
16	chr19:54318400-54327200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:54318400-54327200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:54318800-54327200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:54319600-54323000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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