Variant report

Variant	rs28819668
Chromosome Location	chr19:18464773-18464774
allele	A/G
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	POLR2A	chr19:18464711-18464915	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18456961..18458933-chr19:18464472..18467423,2	MCF-7	breast:
2	chr19:18389468..18392190-chr19:18464220..18468229,4	MCF-7	breast:

Variant related genes	Relation type
PGPEP1	TF binding region
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10409185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10410957	1.00[EUR][1000 genomes]
rs10415054	1.00[EUR][1000 genomes]
rs10418124	1.00[EUR][1000 genomes]
rs10451485	1.00[EUR][1000 genomes]
rs11880673	1.00[EUR][1000 genomes]
rs11881620	1.00[EUR][1000 genomes]
rs28489988	1.00[EUR][1000 genomes]
rs28537851	1.00[EUR][1000 genomes]
rs28706490	1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs7256004	1.00[EUR][1000 genomes]
rs73523060	1.00[EUR][1000 genomes]
rs73523064	1.00[EUR][1000 genomes]
rs73523067	1.00[EUR][1000 genomes]
rs73523088	1.00[EUR][1000 genomes]
rs73525104	1.00[EUR][1000 genomes]
rs73525115	1.00[EUR][1000 genomes]
rs73527416	1.00[EUR][1000 genomes]
rs73529387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101797	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102661	1.00[EUR][1000 genomes]
rs8103073	1.00[EUR][1000 genomes]
rs8103429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105314	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107327	1.00[EUR][1000 genomes]
rs9749302	1.00[EUR][1000 genomes]
rs9917071	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18452200-18466200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:18452200-18466600	Weak transcription	Ovary	ovary
3	chr19:18452200-18468000	Weak transcription	Aorta	Aorta
4	chr19:18452400-18466600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:18452400-18466600	Weak transcription	Right Ventricle	heart
6	chr19:18452400-18468000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:18452400-18484800	Weak transcription	Right Atrium	heart
8	chr19:18452600-18466400	Weak transcription	Brain Angular Gyrus	brain
9	chr19:18452600-18466400	Weak transcription	Colon Smooth Muscle	Colon
10	chr19:18452600-18466400	Weak transcription	Fetal Lung	lung
11	chr19:18452600-18466400	Weak transcription	HSMMtube	muscle
12	chr19:18452600-18466600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:18452600-18466600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:18452600-18466600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:18452600-18466600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:18452600-18466600	Weak transcription	Esophagus	oesophagus
17	chr19:18452600-18466800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr19:18452600-18467200	Weak transcription	Primary B cells from cord blood	blood
19	chr19:18452600-18467400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:18452600-18467800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:18452600-18468000	Weak transcription	HSMM	muscle
22	chr19:18452600-18468200	Weak transcription	NHDF-Ad	bronchial
23	chr19:18452600-18476000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr19:18452600-18484400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:18452800-18466400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:18452800-18466600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr19:18452800-18466600	Weak transcription	Pancreas	Pancrea
28	chr19:18452800-18470400	Weak transcription	Small Intestine	intestine
29	chr19:18452800-18484600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:18453200-18466400	Weak transcription	Brain Anterior Caudate	brain
31	chr19:18453400-18466400	Weak transcription	Brain Substantia Nigra	brain
32	chr19:18453400-18466400	Weak transcription	Hela-S3	cervix
33	chr19:18453400-18468000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:18454400-18465600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:18455200-18466600	Weak transcription	Lung	lung
36	chr19:18455400-18466400	Weak transcription	Adipose Nuclei	Adipose
37	chr19:18455600-18466400	Weak transcription	Brain Germinal Matrix	brain
38	chr19:18455800-18466400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:18455800-18467800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr19:18455800-18468200	Weak transcription	NH-A	brain
41	chr19:18456000-18466200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr19:18456000-18467800	Strong transcription	Fetal Stomach	stomach
43	chr19:18456800-18466400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr19:18457200-18466400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr19:18457200-18466400	Weak transcription	Spleen	Spleen
46	chr19:18457200-18466600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr19:18457200-18466600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:18457200-18475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:18457400-18466200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr19:18457400-18466400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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