Variant report

Variant	rs73343247
Chromosome Location	chr10:54624838-54624839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12411673	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12412393	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12413316	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12413880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12415503	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16934429	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16934609	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16935229	0.83[AMR][1000 genomes]
rs36030089	0.87[ASN][1000 genomes]
rs4935365	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58548489	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73343239	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73343241	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73343242	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73343252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343256	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73343266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343272	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73345214	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73345229	0.87[AMR][1000 genomes]
rs7915776	0.94[ASN][1000 genomes]
rs7920685	0.94[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	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv831876	chr10:54492511-54649392	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv895404	chr10:54545590-54850707	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831877	chr10:54565135-54764638	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv467200	chr10:54585401-54726056	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv550905	chr10:54585401-54726056	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1041940	chr10:54621342-54737528	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54622600-54625200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr10:54622600-54625200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:54622600-54625400	Enhancers	HMEC	breast
4	chr10:54623000-54625400	Enhancers	NHEK	skin
5	chr10:54623000-54626000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:54623200-54626000	Enhancers	NHLF	lung
7	chr10:54623400-54625000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:54623400-54625200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:54623400-54625200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:54623400-54625400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:54623400-54625400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:54623600-54625000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:54623600-54625000	Enhancers	Fetal Intestine Large	intestine
14	chr10:54623600-54625200	Enhancers	NH-A	brain
15	chr10:54623800-54625000	Enhancers	Fetal Intestine Small	intestine
16	chr10:54623800-54625200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr10:54623800-54625200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:54623800-54625200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr10:54624000-54625000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr10:54624000-54625000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:54624000-54625000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr10:54624200-54625000	Enhancers	Fetal Muscle Leg	muscle
23	chr10:54624200-54625200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:54624200-54625200	Enhancers	Placenta	Placenta
25	chr10:54624200-54625600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:54624200-54625600	Enhancers	Fetal Brain Male	brain
27	chr10:54624400-54625000	Enhancers	Fetal Brain Female	brain
28	chr10:54624400-54625200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:54624400-54625200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:54624400-54625200	Enhancers	Left Ventricle	heart
31	chr10:54624400-54626000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:54624400-54626000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:54624600-54625400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:54624600-54627200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr10:54624800-54627000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr10:54624800-54628200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:54624800-54631200	Weak transcription	Fetal Heart	heart

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