Variant report

Variant	rs443239
Chromosome Location	chr19:42506044-42506045
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42504493..42506819-chr19:42531906..42534572,2	MCF-7	breast:
2	chr19:42505192..42506828-chr19:42511615..42513645,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10407506	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs10500285	1.00[ASW][hapmap];0.86[CHD][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs11880124	0.86[CHD][hapmap];0.91[TSI][hapmap]
rs11883412	0.86[CHD][hapmap];0.96[TSI][hapmap]
rs16975663	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs17270169	0.90[CEU][hapmap];0.93[CHD][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap]
rs17342284	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs2217342	0.83[GIH][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs2303652	0.87[TSI][hapmap]
rs3736109	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3826705	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs407096	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454150	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803520	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251466	1.00[ASW][hapmap];0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs899661	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42498600-42507600	Weak transcription	Right Atrium	heart
2	chr19:42502400-42507400	Weak transcription	Brain Anterior Caudate	brain
3	chr19:42502800-42506400	Weak transcription	Dnd41	blood
4	chr19:42503800-42508800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:42503800-42509400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:42504200-42507200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:42504400-42510000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:42504800-42532600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:42505000-42506200	Weak transcription	Aorta	Aorta
10	chr19:42505000-42509800	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:42505000-42510600	Weak transcription	Spleen	Spleen
12	chr19:42505000-42534200	Weak transcription	Fetal Brain Male	brain
13	chr19:42505200-42506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:42505200-42525000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:42505400-42506400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:42505600-42512000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:42505800-42512000	Strong transcription	Fetal Brain Female	brain
18	chr19:42506000-42506600	Strong transcription	Brain Germinal Matrix	brain
19	chr19:42506000-42507600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:42506000-42507800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:42506000-42508000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:42506000-42510600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:42506000-42525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:42506000-42529000	Weak transcription	Brain Angular Gyrus	brain
25	chr19:42506000-42535400	Weak transcription	Primary hematopoietic stem cells	blood

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