Variant report

Variant	rs3113393
Chromosome Location	chr4:124777123-124777124
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1347189	0.83[ASN][1000 genomes]
rs1433211	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1469718	0.83[ASN][1000 genomes]
rs1469720	0.83[ASN][1000 genomes]
rs2116985	0.83[ASN][1000 genomes]
rs2163876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3097903	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3097908	0.83[ASN][1000 genomes]
rs3097931	0.83[ASN][1000 genomes]
rs3097936	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3097938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3097940	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113388	0.88[ASN][1000 genomes]
rs3113389	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3113390	0.88[ASN][1000 genomes]
rs3113392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113395	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124769200-124778000	Weak transcription	Right Atrium	heart
2	chr4:124771000-124778200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:124771200-124777200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:124771400-124778000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:124773200-124778000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:124774600-124777800	Enhancers	HepG2	liver
7	chr4:124775200-124777800	Weak transcription	HUVEC	blood vessel
8	chr4:124775600-124777600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:124776000-124778400	Weak transcription	Ovary	ovary
10	chr4:124776200-124778200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:124776400-124777400	Enhancers	Fetal Kidney	kidney
12	chr4:124776400-124778000	Weak transcription	Fetal Lung	lung
13	chr4:124776400-124781400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:124776600-124777600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:124776600-124777800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:124776600-124777800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:124776600-124778000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:124776600-124778000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:124776600-124778000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:124776600-124778000	Weak transcription	HSMM	muscle
21	chr4:124776600-124778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:124776600-124778200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:124776600-124778200	Enhancers	Adipose Nuclei	Adipose
24	chr4:124776600-124778200	Weak transcription	HSMMtube	muscle
25	chr4:124776800-124777200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:124776800-124777400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr4:124776800-124777800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:124776800-124777800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:124776800-124777800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:124776800-124778000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:124776800-124778000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:124776800-124778000	Weak transcription	Fetal Heart	heart
33	chr4:124776800-124778000	Weak transcription	Psoas Muscle	Psoas
34	chr4:124776800-124778000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:124776800-124778200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:124776800-124778200	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:124776800-124779200	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:124777000-124778000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:124777000-124778000	Weak transcription	NHDF-Ad	bronchial

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