Variant report

Variant	rs66518510
Chromosome Location	chr4:31144810-31144811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10517226	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11931872	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57100354	0.94[EUR][1000 genomes]
rs66987850	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218841	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73218844	0.93[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	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1007884	chr4:31071934-31680623	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007145	chr4:31079681-31670541	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv491749	chr4:31103307-31645668	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:31135800-31147600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:31139800-31147600	Weak transcription	Right Ventricle	heart
3	chr4:31140200-31145800	Weak transcription	Fetal Stomach	stomach
4	chr4:31142000-31149600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:31142600-31147000	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:31142600-31147600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:31142600-31147600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:31142600-31150000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:31143000-31147000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:31143000-31150400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:31143000-31151800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:31143200-31145400	Weak transcription	Fetal Brain Female	brain
13	chr4:31143400-31147000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:31144000-31145600	Strong transcription	Fetal Heart	heart
15	chr4:31144000-31146600	Strong transcription	Fetal Lung	lung
16	chr4:31144000-31146600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:31144200-31146200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:31144200-31147600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:31144400-31145400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:31144400-31147000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:31144600-31146200	Weak transcription	Left Ventricle	heart
22	chr4:31144600-31147600	Weak transcription	Aorta	Aorta

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