Variant report

Variant	rs57565770
Chromosome Location	chr4:126277690-126277691
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1355161	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1396686	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533037	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17009509	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009511	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17009520	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17009526	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009535	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710544	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2710545	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2710562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2710563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2710591	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2940780	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56995730	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57945315	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58972262	1.00[EUR][1000 genomes]
rs6830885	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6840704	1.00[EUR][1000 genomes]
rs885271	1.00[EUR][1000 genomes]
rs970289	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs972312	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126242800-126279600	Weak transcription	Left Ventricle	heart
2	chr4:126265200-126281200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:126266400-126279200	Weak transcription	Fetal Lung	lung
4	chr4:126268200-126278600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:126268200-126279400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:126272800-126278800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:126272800-126280800	Weak transcription	NHDF-Ad	bronchial
8	chr4:126274000-126281000	Weak transcription	Aorta	Aorta
9	chr4:126274000-126288800	Weak transcription	Fetal Stomach	stomach
10	chr4:126274000-126289000	Weak transcription	Fetal Brain Male	brain
11	chr4:126274200-126281000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:126274200-126289400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:126274600-126278800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:126275600-126278600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:126275600-126279200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:126276000-126278000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:126276000-126278200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:126276000-126278600	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:126276400-126280200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:126276600-126282200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:126276800-126289800	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:126277000-126280000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:126277000-126280000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:126277400-126277800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:126277400-126278200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:126277400-126278800	Weak transcription	Brain Substantia Nigra	brain
27	chr4:126277400-126280800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:126277400-126288800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:126277600-126278000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:126277600-126281200	Weak transcription	Brain Hippocampus Middle	brain

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