Variant report

Variant	rs73046265
Chromosome Location	chr1:175880485-175880486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10494494	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801399	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57854154	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59730493	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60798496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711161	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72713224	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046259	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046262	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980042	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv3344055	chr1:175873040-175887908	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175863200-175906400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:175874400-175945600	Weak transcription	A549	lung
3	chr1:175875000-175882800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:175877400-175894600	Weak transcription	HSMM	muscle
5	chr1:175877800-175902400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:175879400-175880600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr1:175879400-175880600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr1:175879400-175880600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr1:175879400-175880600	ZNF genes & repeats	Fetal Muscle Leg	muscle
10	chr1:175879400-175881000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:175879400-175881000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:175879400-175881200	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr1:175879400-175881400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:175879400-175882000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:175879400-175882600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:175879600-175881000	ZNF genes & repeats	Brain Angular Gyrus	brain
17	chr1:175879800-175896000	Weak transcription	Fetal Stomach	stomach
18	chr1:175880000-175880600	ZNF genes & repeats	GM12878-XiMat	blood
19	chr1:175880000-175897200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:175880000-175897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:175880000-175937800	Weak transcription	HSMMtube	muscle
22	chr1:175880200-175883200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:175880200-175883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:175880200-175885400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:175880400-175881000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:175880400-175881400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:175880400-175881800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:175880400-175882000	Weak transcription	Aorta	Aorta
29	chr1:175880400-175882400	Weak transcription	Lung	lung
30	chr1:175880400-175891800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:175880400-175904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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