Variant report

Variant	rs643652
Chromosome Location	chr18:11884670-11884671
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs673735	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv909382	chr18:11870015-11892860	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs643652	MPPE1	cis	multi-tissue	Pritchard
rs643652	MPPE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
2	chr18:11859000-11886400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:11861800-11887800	Weak transcription	Psoas Muscle	Psoas
4	chr18:11871800-11885000	Weak transcription	NHEK	skin
5	chr18:11873000-11887400	Weak transcription	A549	lung
6	chr18:11873200-11902000	Weak transcription	Fetal Heart	heart
7	chr18:11875600-11886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:11876800-11902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:11877000-11886400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr18:11877000-11902400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr18:11878200-11886400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr18:11878200-11895000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr18:11878200-11902400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:11880000-11907600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr18:11880600-11891600	Strong transcription	Adipose Nuclei	Adipose
16	chr18:11880800-11886400	Weak transcription	Stomach Mucosa	stomach
17	chr18:11880800-11891000	Strong transcription	Primary T cells from cord blood	blood
18	chr18:11881200-11886400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:11881600-11884800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr18:11881600-11898400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr18:11881800-11885200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr18:11881800-11886600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:11881800-11906200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr18:11882200-11889000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr18:11882400-11885600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:11882400-11907000	Weak transcription	Small Intestine	intestine
27	chr18:11882600-11884800	Weak transcription	HSMMtube	muscle
28	chr18:11882800-11884800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:11882800-11891000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr18:11882800-11895600	Weak transcription	NHDF-Ad	bronchial
31	chr18:11883000-11885200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr18:11883000-11890800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:11883400-11897000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:11883600-11885600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr18:11883600-11886400	Weak transcription	Fetal Kidney	kidney
36	chr18:11883600-11893600	Weak transcription	HUVEC	blood vessel
37	chr18:11883600-11896800	Strong transcription	Fetal Intestine Small	intestine
38	chr18:11883600-11907000	Weak transcription	NH-A	brain
39	chr18:11883800-11884800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
40	chr18:11883800-11885800	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr18:11883800-11886000	Strong transcription	Brain Anterior Caudate	brain
42	chr18:11883800-11887600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:11883800-11888400	Strong transcription	Ovary	ovary
44	chr18:11883800-11890600	Strong transcription	Left Ventricle	heart
45	chr18:11883800-11890800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:11883800-11891000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr18:11883800-11894200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr18:11883800-11898400	Strong transcription	Fetal Stomach	stomach
49	chr18:11884000-11885200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr18:11884000-11885800	Strong transcription	Fetal Brain Female	brain

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