Variant report

Variant	rs11083643
Chromosome Location	chr19:42488938-42488939
allele	G/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:17)

rs_ID	r²[population]
rs10409021	1.00[MKK][hapmap]
rs10425682	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs11668239	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs11669918	1.00[LWK][hapmap]
rs11671088	1.00[LWK][hapmap]
rs11672172	1.00[MKK][hapmap]
rs12460885	1.00[LWK][hapmap]
rs12609687	1.00[CHD][hapmap]
rs12610025	1.00[LWK][hapmap]
rs12976997	1.00[CHD][hapmap]
rs12985559	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs2290694	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs2303797	1.00[LWK][hapmap]
rs34578730	1.00[CHD][hapmap]
rs3745221	1.00[MKK][hapmap]
rs3745226	1.00[LWK][hapmap]
rs9676263	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv911780	chr19:42398450-42521108	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv911781	chr19:42398450-42542999	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42464000-42495000	Weak transcription	Fetal Brain Male	brain
2	chr19:42464200-42489400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:42464200-42491000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr19:42464200-42491200	Weak transcription	Fetal Heart	heart
5	chr19:42464200-42493800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr19:42464200-42495000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:42464200-42497400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:42464200-42497400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:42471800-42490000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr19:42472000-42490000	Weak transcription	Spleen	Spleen
11	chr19:42472400-42497400	Weak transcription	Fetal Thymus	thymus
12	chr19:42472800-42493400	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:42479800-42491400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:42480200-42497200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:42482400-42497400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:42483000-42497400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:42486000-42496600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:42486200-42489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:42486200-42495000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:42486200-42497400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:42486400-42489000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr19:42486400-42489000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:42486400-42489000	Weak transcription	Primary T cells from cord blood	blood
24	chr19:42486400-42489000	Weak transcription	Left Ventricle	heart
25	chr19:42486400-42489200	Weak transcription	Brain Anterior Caudate	brain
26	chr19:42486400-42489200	Weak transcription	Thymus	Thymus
27	chr19:42486400-42491000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:42486400-42491400	Weak transcription	Brain Angular Gyrus	brain
29	chr19:42486400-42496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:42486600-42489000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:42487000-42489000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:42487200-42489000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:42487200-42489000	Weak transcription	Dnd41	blood
34	chr19:42487200-42489200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:42488600-42493000	Strong transcription	Fetal Brain Female	brain
36	chr19:42488600-42493000	Strong transcription	Right Ventricle	heart
37	chr19:42488600-42493200	Strong transcription	Brain Germinal Matrix	brain
38	chr19:42488800-42489200	Enhancers	A549	lung
39	chr19:42488800-42493000	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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