Variant report

Variant	rs7250234
Chromosome Location	chr19:39790292-39790293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1057745	0.89[YRI][hapmap]
rs56222183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57536536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58949744	1.00[AMR][1000 genomes]
rs60577443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840261	1.00[AMR][1000 genomes]
rs61112725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61213828	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61535148	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]
rs7250913	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544054	1.00[EUR][1000 genomes]
rs73544098	1.00[AMR][1000 genomes]
rs73546015	0.97[AFR][1000 genomes];1.00[AMR][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:4 , 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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39787200-39797800	Weak transcription	Right Atrium	heart
2	chr19:39787400-39794200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:39787400-39795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:39788200-39790400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:39788200-39790600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr19:39788800-39802200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:39789000-39794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:39789000-39801000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:39789400-39797800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:39789600-39790400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr19:39789600-39791000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr19:39789600-39791000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:39789600-39803000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:39789800-39801600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:39790200-39802000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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