Variant report

Variant	rs6509012
Chromosome Location	chr19:42884213-42884214
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	chr19:42882253..42884746-chr19:42889914..42891793,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10403246	1.00[AMR][1000 genomes]
rs10406755	1.00[AMR][1000 genomes]
rs10408141	1.00[AMR][1000 genomes]
rs10408258	0.81[AFR][1000 genomes]
rs10411498	0.81[AFR][1000 genomes]
rs10412954	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414620	0.85[AFR][1000 genomes]
rs10415478	1.00[AMR][1000 genomes]
rs10416241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418493	1.00[AMR][1000 genomes]
rs10419013	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10421026	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10421409	0.81[AFR][1000 genomes]
rs10425003	0.81[AFR][1000 genomes]
rs10425883	1.00[AMR][1000 genomes]
rs10426284	0.81[AFR][1000 genomes]
rs11880356	0.81[AFR][1000 genomes]
rs13343322	0.81[AFR][1000 genomes]
rs13343719	0.81[AFR][1000 genomes]
rs13343761	0.81[AFR][1000 genomes]
rs13345986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28393692	1.00[AMR][1000 genomes]
rs28483598	0.81[AFR][1000 genomes]
rs28532592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28572784	0.91[AFR][1000 genomes]
rs28675764	0.81[AFR][1000 genomes]
rs35620536	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59870753	0.81[AFR][1000 genomes]
rs7257090	1.00[AMR][1000 genomes]
rs7258727	0.81[AFR][1000 genomes]
rs73552850	1.00[AMR][1000 genomes]
rs8099885	0.81[AFR][1000 genomes]
rs8109258	0.81[AFR][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	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
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42869000-42884400	Weak transcription	Colonic Mucosa	Colon
2	chr19:42869600-42890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:42871400-42890800	Weak transcription	Psoas Muscle	Psoas
4	chr19:42872000-42884800	Weak transcription	A549	lung
5	chr19:42874400-42891000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:42874800-42884400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:42875800-42886000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:42877200-42890800	Weak transcription	Primary B cells from cord blood	blood
9	chr19:42877200-42890800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:42879400-42885600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr19:42879400-42891000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:42879600-42890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:42879800-42884400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:42880000-42885200	Weak transcription	Left Ventricle	heart
15	chr19:42880000-42891000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:42880400-42884600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:42880400-42885000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:42880400-42885600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:42880400-42891000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:42880800-42886000	Weak transcription	Spleen	Spleen
21	chr19:42880800-42890600	Weak transcription	Right Ventricle	heart
22	chr19:42881200-42886200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:42881200-42891000	Weak transcription	Gastric	stomach
24	chr19:42881400-42885800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:42881400-42891000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:42881400-42891000	Weak transcription	Brain Anterior Caudate	brain
27	chr19:42881400-42891200	Weak transcription	Brain Hippocampus Middle	brain
28	chr19:42881600-42884400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:42881600-42891000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:42882000-42886200	Enhancers	Fetal Intestine Large	intestine
31	chr19:42882800-42890800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:42883400-42884400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:42883400-42884800	Weak transcription	GM12878-XiMat	blood
34	chr19:42884200-42884400	Enhancers	Duodenum Mucosa	Duodenum
35	chr19:42884200-42885800	Enhancers	Fetal Intestine Small	intestine

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