Variant report

Variant	rs7226
Chromosome Location	chr19:18480609-18480610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18470204..18480928-chr19:18494320..18503112,19	MCF-7	breast:
2	chr19:18474546..18477478-chr19:18478886..18480822,3	MCF-7	breast:
3	chr19:18450732..18452741-chr19:18480505..18482349,2	K562	blood:

Variant related genes	Relation type
ENSG00000264175	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000130513	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10424912	0.91[ASN][1000 genomes]
rs1059369	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs12104325	0.82[ASN][1000 genomes]
rs12460909	0.93[ASN][1000 genomes]
rs12461382	0.84[EUR][1000 genomes]
rs1804826	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs2161106	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808790	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808791	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4808795	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs73011458	0.81[EUR][1000 genomes]
rs8105429	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7226	PGPEP1	cis	multi-tissue	Pritchard

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18452400-18484800	Weak transcription	Right Atrium	heart
2	chr19:18452600-18484400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:18452800-18484600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:18468600-18484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:18469000-18484200	Weak transcription	Primary B cells from cord blood	blood
6	chr19:18469000-18484600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:18470200-18484400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:18471200-18481200	Enhancers	Placenta	Placenta
9	chr19:18473000-18484400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:18473000-18484800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:18473200-18484400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:18474400-18483600	Weak transcription	Gastric	stomach
13	chr19:18474600-18484400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:18474800-18484400	Weak transcription	Brain Angular Gyrus	brain
15	chr19:18474800-18484400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:18474800-18484800	Weak transcription	Brain Anterior Caudate	brain
17	chr19:18475600-18484400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:18475600-18484600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:18475800-18482200	Weak transcription	Brain Germinal Matrix	brain
20	chr19:18475800-18484600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:18476000-18484600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:18476200-18483400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:18476600-18484400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:18476600-18484400	Weak transcription	Small Intestine	intestine
25	chr19:18476600-18484600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:18476600-18484800	Weak transcription	Liver	Liver
27	chr19:18476800-18484400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:18476800-18484400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:18476800-18484400	Weak transcription	HSMMtube	muscle
30	chr19:18476800-18484600	Weak transcription	Aorta	Aorta
31	chr19:18476800-18484600	Weak transcription	Right Ventricle	heart
32	chr19:18476800-18484800	Weak transcription	Fetal Lung	lung
33	chr19:18477000-18481000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:18477000-18481800	Weak transcription	Primary T cells from cord blood	blood
35	chr19:18477000-18483200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:18477000-18483600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr19:18477000-18483600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:18477000-18484400	Weak transcription	Spleen	Spleen
39	chr19:18477000-18484600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:18477000-18484600	Weak transcription	Colonic Mucosa	Colon
41	chr19:18477200-18483400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:18477200-18483400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:18477200-18483600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr19:18477200-18484200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:18477200-18484400	Weak transcription	Stomach Mucosa	stomach
46	chr19:18477200-18484400	Weak transcription	NH-A	brain
47	chr19:18477200-18484400	Weak transcription	NHLF	lung
48	chr19:18477200-18484600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:18477200-18484600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr19:18477200-18484800	Weak transcription	Brain Cingulate Gyrus	brain

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