Variant report

Variant	rs16976823
Chromosome Location	chr18:11887031-11887032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11885563..11889310-chr18:11906331..11909961,4	MCF-7	breast:
2	chr18:11885013..11887914-chr18:11888832..11891708,3	K562	blood:

Variant related genes	Relation type
ENSG00000154889	Chromatin interaction
ENSG00000273141	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16976822	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664701	1.00[ASN][1000 genomes]
rs59240143	1.00[ASN][1000 genomes]
rs6650615	1.00[CHB][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs72865240	1.00[ASN][1000 genomes]
rs8089894	1.00[CHB][hapmap]
rs9951817	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16976823	MPPE1	cis	multi-tissue	Pritchard
rs16976823	ENSG00000154889	cis	multi-tissue	Pritchard
rs16976823	MPPE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 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	chr18:11861800-11887800	Weak transcription	Psoas Muscle	Psoas
3	chr18:11873000-11887400	Weak transcription	A549	lung
4	chr18:11873200-11902000	Weak transcription	Fetal Heart	heart
5	chr18:11876800-11902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:11877000-11902400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr18:11878200-11895000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr18:11878200-11902400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr18:11880000-11907600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr18:11880600-11891600	Strong transcription	Adipose Nuclei	Adipose
11	chr18:11880800-11891000	Strong transcription	Primary T cells from cord blood	blood
12	chr18:11881600-11898400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr18:11881800-11906200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr18:11882200-11889000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:11882400-11907000	Weak transcription	Small Intestine	intestine
16	chr18:11882800-11891000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr18:11882800-11895600	Weak transcription	NHDF-Ad	bronchial
18	chr18:11883000-11890800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:11883400-11897000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:11883600-11893600	Weak transcription	HUVEC	blood vessel
21	chr18:11883600-11896800	Strong transcription	Fetal Intestine Small	intestine
22	chr18:11883600-11907000	Weak transcription	NH-A	brain
23	chr18:11883800-11887600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:11883800-11888400	Strong transcription	Ovary	ovary
25	chr18:11883800-11890600	Strong transcription	Left Ventricle	heart
26	chr18:11883800-11890800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr18:11883800-11891000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr18:11883800-11894200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr18:11883800-11898400	Strong transcription	Fetal Stomach	stomach
30	chr18:11884000-11887400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:11884000-11887600	Strong transcription	Colon Smooth Muscle	Colon
32	chr18:11884000-11888600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:11884000-11889000	Strong transcription	Fetal Lung	lung
34	chr18:11884000-11889400	Strong transcription	Osteobl	bone
35	chr18:11884000-11890000	Strong transcription	Aorta	Aorta
36	chr18:11884000-11890800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr18:11884000-11890800	Strong transcription	Esophagus	oesophagus
38	chr18:11884000-11891000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr18:11884000-11891800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr18:11884000-11893000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr18:11884000-11893400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:11884000-11893800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:11884000-11893800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr18:11884000-11894200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:11884000-11897000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr18:11884000-11897200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr18:11884000-11898200	Strong transcription	Fetal Muscle Leg	muscle
48	chr18:11884000-11898800	Strong transcription	Thymus	Thymus
49	chr18:11884000-11899800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:11884000-11906200	Strong transcription	Fetal Thymus	thymus

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