Variant report

Variant	rs73170494
Chromosome Location	chr13:38494021-38494022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1093510	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337085	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378806	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17209704	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17210436	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1953688	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068890	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2786642	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786643	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563575	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73170487	0.95[EUR][1000 genomes]
rs7325031	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73466440	0.86[ASN][1000 genomes]
rs817735	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817736	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817737	0.83[EUR][1000 genomes]
rs846414	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846415	0.81[EUR][1000 genomes]
rs863661	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315527	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9603289	0.86[ASN][1000 genomes]
rs961158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv899996	chr13:38459224-38577056	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv899997	chr13:38480878-38518459	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv899998	chr13:38480878-38582178	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38484200-38494200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:38488200-38494200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:38492600-38494400	Enhancers	HMEC	breast
4	chr13:38492800-38494200	Enhancers	Adipose Nuclei	Adipose
5	chr13:38492800-38494400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr13:38492800-38494400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:38492800-38494400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:38493000-38494200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:38493000-38494200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:38493000-38494200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:38493400-38497000	Weak transcription	K562	blood
12	chr13:38493600-38494200	Enhancers	NHDF-Ad	bronchial
13	chr13:38493600-38494400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:38493600-38494400	Enhancers	NHEK	skin
15	chr13:38493800-38498600	Weak transcription	Fetal Heart	heart
16	chr13:38494000-38494200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr13:38494000-38494200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:38494000-38494200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr13:38494000-38494200	Flanking Active TSS	Osteobl	bone
20	chr13:38494000-38494400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:38494000-38494400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:38494000-38494400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:38494000-38494400	Flanking Active TSS	Ovary	ovary
24	chr13:38494000-38494600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell

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