Variant report

Variant	rs11165080
Chromosome Location	chr1:94589849-94589850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10493869	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10493870	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10874835	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165076	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11165079	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165082	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11588391	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12025221	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12035820	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17111122	0.82[EUR][1000 genomes]
rs1931564	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1931566	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931570	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789439	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3789440	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3789442	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3789443	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3789444	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3827714	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4147798	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4147801	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61784007	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784009	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv870932	chr1:94579053-94607607	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv871679	chr1:94579426-94598568	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv871502	chr1:94579426-94607607	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv871306	chr1:94579426-94609478	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv871210	chr1:94579426-94629643	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv523430	chr1:94582249-94591481	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	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	chr1:94564600-94591800	Weak transcription	Right Atrium	heart
2	chr1:94583000-94591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:94585600-94591400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:94586000-94591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:94586200-94591400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:94586200-94591400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:94586200-94591600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:94586200-94591600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:94586200-94591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:94587000-94592400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:94587400-94591400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:94587400-94591600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:94587600-94591400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:94587600-94591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:94587600-94591400	Weak transcription	Fetal Kidney	kidney
16	chr1:94587600-94591400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:94587600-94591600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:94587600-94591600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:94587600-94591600	Enhancers	HepG2	liver
20	chr1:94588000-94591400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:94588400-94590200	Weak transcription	HUVEC	blood vessel
22	chr1:94588600-94595000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:94588600-94596400	Weak transcription	Osteobl	bone
24	chr1:94588600-94596600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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