Variant report

Variant	rs73553830
Chromosome Location	chr19:40034940-40034941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:40034926-40035145	K562	blood:	n/a	n/a
2	CEBPB	chr19:40034855-40035422	A549	lung:	n/a	n/a
3	TAL1	chr19:40034938-40035175	K562	blood:	n/a	n/a
4	CEBPB	chr19:40034929-40035478	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
EID2	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13346478	1.00[EUR][1000 genomes]
rs16973573	1.00[EUR][1000 genomes]
rs58949744	1.00[AMR][1000 genomes]
rs60839689	1.00[AMR][1000 genomes]
rs60840261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61124676	1.00[AMR][1000 genomes]
rs7247534	1.00[EUR][1000 genomes]
rs7254051	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]
rs73551806	1.00[EUR][1000 genomes]
rs73551815	1.00[EUR][1000 genomes]
rs73551844	1.00[EUR][1000 genomes]
rs73553808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553812	1.00[AMR][1000 genomes]
rs73553822	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553832	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553835	1.00[AMR][1000 genomes]
rs73553853	1.00[AMR][1000 genomes]
rs8101134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9676712	1.00[EUR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40031000-40037200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:40031200-40043600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:40031200-40049600	Weak transcription	Right Atrium	heart
4	chr19:40031400-40042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:40032600-40038000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr19:40032800-40035200	Enhancers	HMEC	breast
7	chr19:40032800-40035400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:40032800-40035400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:40032800-40035600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:40032800-40035800	Enhancers	NHEK	skin
11	chr19:40032800-40036200	Enhancers	Placenta	Placenta
12	chr19:40032800-40038000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:40033400-40036600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:40033600-40042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:40033800-40035000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr19:40033800-40035400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:40033800-40035600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr19:40033800-40038000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr19:40034000-40037800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr19:40034000-40038000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:40034200-40035200	Enhancers	Primary T cells from cord blood	blood
22	chr19:40034200-40037600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr19:40034200-40038000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr19:40034200-40038600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr19:40034600-40037400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:40034800-40035000	Enhancers	Fetal Lung	lung
27	chr19:40034800-40035200	Enhancers	Hela-S3	cervix
28	chr19:40034800-40036000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:40034800-40037800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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