Variant report

Variant	rs10474818
Chromosome Location	chr5:7723181-7723182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10475389	1.00[EUR][1000 genomes]
rs11134253	0.88[AFR][1000 genomes]
rs11134255	1.00[AFR][1000 genomes]
rs13168000	0.95[AFR][1000 genomes]
rs16878974	1.00[EUR][1000 genomes]
rs16878987	1.00[EUR][1000 genomes]
rs4235584	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4701792	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58196482	1.00[EUR][1000 genomes]
rs6555489	1.00[EUR][1000 genomes]
rs9313202	1.00[AFR][1000 genomes];1.00[AMR][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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1024268	chr5:7707047-7821303	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7688000-7743200	Weak transcription	Brain Substantia Nigra	brain
2	chr5:7704400-7723400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:7705800-7734600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:7705800-7745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:7705800-7755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:7706000-7726600	Weak transcription	Fetal Stomach	stomach
7	chr5:7706200-7729200	Weak transcription	Brain Angular Gyrus	brain
8	chr5:7706600-7728400	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:7710200-7727000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:7711000-7783600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:7711600-7723800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:7712000-7746000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:7717000-7727800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:7719000-7768800	Weak transcription	Brain Anterior Caudate	brain
15	chr5:7719000-7785000	Weak transcription	Aorta	Aorta
16	chr5:7719600-7746200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:7720000-7724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:7720000-7726400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:7720000-7743200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:7720400-7757400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:7722400-7725800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:7722400-7727000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:7722400-7741400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:7722400-7741600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:7722400-7745000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:7722400-7745800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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