Variant report

Variant	rs73930742
Chromosome Location	chr19:40037578-40037579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40037448..40039461-chr19:40073306..40075141,2	K562	blood:
2	chr19:40035928..40038134-chr19:40045282..40047956,2	K562	blood:

Variant related genes	Relation type
ENSG00000269188	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10409266	1.00[AMR][1000 genomes]
rs10410433	1.00[AMR][1000 genomes]
rs10415824	1.00[AMR][1000 genomes]
rs10416483	1.00[AMR][1000 genomes]
rs10416833	1.00[AMR][1000 genomes]
rs10418621	1.00[AMR][1000 genomes]
rs11878949	1.00[AMR][1000 genomes]
rs11881743	1.00[AMR][1000 genomes]
rs11881791	1.00[AMR][1000 genomes]
rs11882363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13345090	1.00[AMR][1000 genomes]
rs28673032	1.00[AMR][1000 genomes]
rs35805511	1.00[AMR][1000 genomes]
rs35904695	1.00[AMR][1000 genomes]
rs55715307	1.00[AMR][1000 genomes]
rs56110409	1.00[AMR][1000 genomes]
rs57795340	1.00[AMR][1000 genomes]
rs59673015	1.00[AMR][1000 genomes]
rs60760924	1.00[AMR][1000 genomes]
rs61201100	1.00[AMR][1000 genomes]
rs73930737	1.00[AMR][1000 genomes]
rs73930738	1.00[AMR][1000 genomes]
rs73930740	1.00[AMR][1000 genomes]
rs73930743	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930744	1.00[AMR][1000 genomes]
rs73930746	1.00[AMR][1000 genomes]
rs73930752	1.00[AMR][1000 genomes]
rs73930764	1.00[AMR][1000 genomes]
rs73930765	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	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr19:40031200-40043600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:40031200-40049600	Weak transcription	Right Atrium	heart
3	chr19:40031400-40042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:40032600-40038000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr19:40032800-40038000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:40033600-40042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:40033800-40038000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:40034000-40037800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr19:40034000-40038000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:40034200-40037600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr19:40034200-40038000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr19:40034200-40038600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr19:40034800-40037800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:40035400-40038200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:40036000-40037800	Enhancers	Primary T cells from cord blood	blood
16	chr19:40037000-40038200	Enhancers	NHEK	skin
17	chr19:40037400-40037600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:40037400-40038200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:40037400-40038400	Enhancers	Placenta	Placenta

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