Variant report

Variant	rs60577443
Chromosome Location	chr19:39794662-39794663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39620628..39623686-chr19:39793053..39797178,3	K562	blood:
2	chr19:39792656..39794675-chr19:39795955..39798100,3	MCF-7	breast:
3	chr19:39793347..39796509-chr19:39799969..39804115,5	K562	blood:
4	chr19:39792655..39795085-chr19:39811265..39813556,2	MCF-7	breast:
5	chr19:39794184..39795931-chr19:39900825..39902976,2	K562	blood:
6	chr19:39794106..39797864-chr19:39814287..39817446,3	K562	blood:
7	chr19:39789225..39792097-chr19:39792956..39796985,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268262	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17878918	1.00[EUR][1000 genomes]
rs56222183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56904899	1.00[EUR][1000 genomes]
rs57536536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58949744	1.00[AMR][1000 genomes]
rs60840261	1.00[AMR][1000 genomes]
rs61112725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61213828	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61595075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61730567	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7250234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7250913	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544098	1.00[AMR][1000 genomes]
rs73546015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73546026	1.00[AMR][1000 genomes]
rs73546080	1.00[AMR][1000 genomes]
rs73547904	1.00[AMR][1000 genomes]
rs73547972	1.00[AMR][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	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39787200-39797800	Weak transcription	Right Atrium	heart
2	chr19:39787400-39795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:39788800-39802200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:39789000-39801000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr19:39789400-39797800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:39789600-39803000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:39789800-39801600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:39790200-39802000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr19:39790400-39809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:39790600-39810000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:39791000-39797600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:39791000-39798400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr19:39793600-39794800	Enhancers	Placenta	Placenta
14	chr19:39793800-39794800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr19:39794000-39797400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:39794000-39797600	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr19:39794200-39796400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:39794400-39795600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:39794400-39795600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:39794400-39796000	Weak transcription	A549	lung
21	chr19:39794400-39796200	Weak transcription	HepG2	liver
22	chr19:39794600-39794800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:39794600-39795200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:39794600-39795800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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