Variant report

Variant	rs57945315
Chromosome Location	chr4:126356049-126356050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1355161	0.82[EUR][1000 genomes]
rs1396686	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1533037	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17009509	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17009511	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17009520	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17009526	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17009535	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2710544	0.82[EUR][1000 genomes]
rs2710545	0.86[EUR][1000 genomes]
rs2710557	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2710562	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2710563	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2710591	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2940780	0.86[EUR][1000 genomes]
rs56995730	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57565770	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58972262	0.86[EUR][1000 genomes]
rs6830885	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6840704	0.86[EUR][1000 genomes]
rs885271	0.86[EUR][1000 genomes]
rs970289	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs972312	0.86[EUR][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	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126334600-126390400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:126335200-126400800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:126337000-126364400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:126337800-126356600	Weak transcription	Liver	Liver
5	chr4:126338600-126371000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:126338800-126371400	Weak transcription	Fetal Intestine Large	intestine
7	chr4:126342400-126375400	Weak transcription	Right Ventricle	heart
8	chr4:126342600-126371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:126345000-126369600	Weak transcription	Ovary	ovary
10	chr4:126345000-126371400	Weak transcription	Fetal Stomach	stomach
11	chr4:126345000-126371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:126345000-126373200	Weak transcription	Lung	lung
13	chr4:126345600-126369400	Weak transcription	Fetal Kidney	kidney
14	chr4:126345600-126369600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:126345600-126369600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:126347800-126382800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:126351600-126356600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:126351600-126369400	Weak transcription	Fetal Brain Female	brain
19	chr4:126353400-126373000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:126353600-126367400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:126353600-126371400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:126353600-126377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:126354400-126356200	Enhancers	HSMMtube	muscle
24	chr4:126355000-126369600	Weak transcription	NHLF	lung
25	chr4:126355000-126399600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:126355200-126356400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:126355200-126369400	Weak transcription	HUVEC	blood vessel
28	chr4:126355400-126356200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:126355400-126356200	Strong transcription	Fetal Muscle Leg	muscle
30	chr4:126355400-126356400	Strong transcription	Left Ventricle	heart
31	chr4:126355400-126357000	Strong transcription	Colon Smooth Muscle	Colon
32	chr4:126355400-126357000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr4:126355400-126358200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:126355600-126356400	Strong transcription	Osteobl	bone
35	chr4:126355600-126369800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:126355800-126356200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:126355800-126356200	Genic enhancers	Fetal Lung	lung
38	chr4:126356000-126356200	Strong transcription	Aorta	Aorta
39	chr4:126356000-126356400	Strong transcription	Adipose Nuclei	Adipose
40	chr4:126356000-126357800	Weak transcription	Placenta	Placenta
41	chr4:126356000-126369800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:126356000-126391600	Weak transcription	HSMM	muscle

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