Variant report

Variant	rs711366
Chromosome Location	chr5:126996381-126996382
allele	C/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:13)

rs_ID	r²[population]
rs1002214	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1067705	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34713863	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs711361	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs711362	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs711363	0.94[EUR][1000 genomes]
rs711364	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs711365	0.93[ASN][1000 genomes]
rs711367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs711369	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs790829	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs796919	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs806464	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv599664	chr5:126974071-127016256	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126991400-127001800	Weak transcription	Fetal Lung	lung
2	chr5:126994800-126996400	Enhancers	Fetal Kidney	kidney
3	chr5:126995200-126996400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:126995200-126996600	Enhancers	Colon Smooth Muscle	Colon
5	chr5:126995400-126996400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126995400-126996400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:126995400-126996400	Enhancers	Ovary	ovary
8	chr5:126995400-126996400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:126995400-126996600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:126995400-126996600	Enhancers	Fetal Heart	heart
11	chr5:126995400-126996600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:126995600-126996400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:126995600-126996400	Enhancers	Left Ventricle	heart
14	chr5:126995600-126996600	Enhancers	Fetal Muscle Leg	muscle
15	chr5:126995600-126997200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:126995800-126996600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:126996000-126996400	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:126996000-127000000	Weak transcription	Psoas Muscle	Psoas
19	chr5:126996200-126996400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:126996200-126997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:126996200-126997600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:126996200-126998800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:126996200-126998800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:126996200-127002200	Weak transcription	Fetal Stomach	stomach
25	chr5:126996200-127006200	Weak transcription	Stomach Smooth Muscle	stomach

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