Variant report

Variant	rs73159380
Chromosome Location	chr13:30580490-30580491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1122694	0.81[ASN][1000 genomes]
rs11616638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11617050	0.94[ASN][1000 genomes]
rs11617134	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11619623	0.83[EUR][1000 genomes]
rs11620285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620467	0.94[ASN][1000 genomes]
rs12428597	0.86[EUR][1000 genomes]
rs17588454	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28366394	0.94[ASN][1000 genomes]
rs3119823	0.88[ASN][1000 genomes]
rs3119824	0.86[ASN][1000 genomes]
rs35831078	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534683	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583075	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583076	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769798	0.83[ASN][1000 genomes]
rs4991495	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536937	0.91[ASN][1000 genomes]
rs59372413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60452760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60621210	0.99[ASN][1000 genomes]
rs637375	0.94[ASN][1000 genomes]
rs73159367	0.93[ASN][1000 genomes]
rs73159377	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73159384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73161505	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73161506	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7317000	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7329842	0.95[ASN][1000 genomes]
rs860181	0.94[ASN][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30577000-30580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:30577800-30581200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr13:30578000-30581000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr13:30578600-30580600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:30578800-30580600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:30578800-30583000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:30578800-30588200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:30579400-30580600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:30579800-30581000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:30580200-30581200	Enhancers	Primary T cells from cord blood	blood
11	chr13:30580400-30580600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:30580400-30580600	Bivalent Enhancer	Dnd41	blood
13	chr13:30580400-30580800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:30580400-30580800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr13:30580400-30580800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:30580400-30580800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr13:30580400-30580800	Enhancers	Fetal Thymus	thymus
18	chr13:30580400-30581000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:30580400-30581000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr13:30580400-30581000	Enhancers	Thymus	Thymus
21	chr13:30580400-30581600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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