Variant report

Variant	rs2314588
Chromosome Location	chr4:15456794-15456795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11722737	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11728225	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11728800	0.83[ASN][1000 genomes]
rs11737539	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500458	0.83[ASN][1000 genomes]
rs13108525	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13118306	0.81[ASN][1000 genomes]
rs13131700	0.83[ASN][1000 genomes]
rs13132762	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13146183	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13149679	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13150862	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13152775	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17384915	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17385047	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17469433	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17469572	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17469634	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17469704	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110362	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192358	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2314590	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2872669	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3087622	0.83[ASN][1000 genomes]
rs34971067	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35132992	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35866319	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4698387	0.83[ASN][1000 genomes]
rs62289263	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs733388	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs961588	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15438400-15458800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:15438800-15471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:15448400-15458800	Weak transcription	Primary T cells from cord blood	blood
4	chr4:15453000-15458800	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:15453400-15458200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:15453400-15458400	Weak transcription	Primary B cells from cord blood	blood
7	chr4:15453400-15458600	Weak transcription	Left Ventricle	heart
8	chr4:15453600-15456800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:15453600-15457600	Enhancers	NHDF-Ad	bronchial
10	chr4:15453600-15458400	Weak transcription	Spleen	Spleen
11	chr4:15453600-15458600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:15453600-15459000	Weak transcription	Brain Anterior Caudate	brain
13	chr4:15453600-15459000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:15453800-15458600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:15454000-15458400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:15454000-15458800	Weak transcription	Fetal Lung	lung
17	chr4:15454200-15456800	Weak transcription	Right Atrium	heart
18	chr4:15454200-15458600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:15454200-15458600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:15454200-15458800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:15454200-15458800	Weak transcription	Stomach Mucosa	stomach
22	chr4:15454200-15459000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:15454400-15456800	Weak transcription	HSMMtube	muscle
24	chr4:15454400-15457200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:15454400-15458800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:15454400-15458800	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:15454600-15458600	Weak transcription	Fetal Stomach	stomach
28	chr4:15454800-15456800	Weak transcription	HSMM	muscle
29	chr4:15454800-15459000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:15454800-15459000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:15455800-15457600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:15456200-15457200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:15456200-15457600	Enhancers	Placenta	Placenta
34	chr4:15456200-15459600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:15456200-15459800	Enhancers	NHLF	lung
36	chr4:15456400-15457400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:15456400-15457600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:15456400-15457600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:15456400-15457600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:15456400-15457600	Enhancers	Aorta	Aorta
41	chr4:15456400-15457600	Enhancers	Osteobl	bone
42	chr4:15456400-15457800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:15456400-15458800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr4:15456400-15459800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr4:15456600-15456800	Enhancers	Psoas Muscle	Psoas
46	chr4:15456600-15457400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr4:15456600-15457600	Enhancers	Liver	Liver
48	chr4:15456600-15457600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:15456600-15457800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:15456600-15457800	Enhancers	Adipose Nuclei	Adipose

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