Variant report

Variant	rs13124698
Chromosome Location	chr4:175156017-175156018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1508222	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17357120	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1876515	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332836	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35622584	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13124698	CEP44	cis	Esophagus Muscularis	GTEx
rs13124698	CEP44	cis	Thyroid	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175146600-175158000	Weak transcription	Placenta	Placenta
2	chr4:175147000-175157000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:175147000-175157200	Weak transcription	Liver	Liver
4	chr4:175147000-175163000	Weak transcription	Fetal Stomach	stomach
5	chr4:175147600-175157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:175147600-175195200	Weak transcription	Psoas Muscle	Psoas
7	chr4:175149200-175158400	Weak transcription	Fetal Intestine Large	intestine
8	chr4:175149600-175158000	Weak transcription	Adipose Nuclei	Adipose
9	chr4:175151000-175163200	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:175151400-175192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:175151600-175158400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:175151600-175162600	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:175151800-175158000	Weak transcription	Primary B cells from cord blood	blood
14	chr4:175151800-175169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:175151800-175181600	Weak transcription	Brain Angular Gyrus	brain
16	chr4:175152000-175156600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:175152000-175158400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:175152000-175158400	Weak transcription	Left Ventricle	heart
19	chr4:175152000-175165400	Weak transcription	NHDF-Ad	bronchial
20	chr4:175152200-175156400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:175152400-175157200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:175152400-175162000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:175152600-175156400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:175152600-175169400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:175152600-175176400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:175153000-175156200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:175153000-175156600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:175153000-175158200	Weak transcription	Fetal Lung	lung
29	chr4:175153000-175158400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:175153000-175174200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:175153200-175156400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr4:175153200-175156600	Weak transcription	Primary T cells from cord blood	blood
33	chr4:175153200-175158200	Weak transcription	Pancreas	Pancrea
34	chr4:175153200-175169000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:175153200-175174600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:175153200-175184000	Weak transcription	Lung	lung
37	chr4:175153400-175156200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:175153400-175157200	Weak transcription	Fetal Intestine Small	intestine
39	chr4:175153400-175160000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:175153400-175191600	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:175153800-175157200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:175153800-175158200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:175153800-175158200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:175154000-175157000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:175154000-175157200	Weak transcription	Fetal Thymus	thymus
46	chr4:175154000-175157200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:175154200-175157200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:175154200-175161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
50	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus

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