Variant report

Variant	rs58340686
Chromosome Location	chr18:8007500-8007501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16952755	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16952764	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16952768	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4633833	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs718274	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7227734	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7229479	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7237410	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238517	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7241732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244725	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8084791	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8088827	0.92[EUR][1000 genomes]
rs8089170	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8096085	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7987600-8033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8001000-8007600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:8001400-8029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:8001400-8029200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:8004200-8007600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr18:8004200-8020200	Weak transcription	Pancreas	Pancrea
7	chr18:8004200-8029000	Weak transcription	Gastric	stomach
8	chr18:8004400-8016200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr18:8004600-8020200	Weak transcription	Fetal Lung	lung
10	chr18:8004800-8010400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:8004800-8016200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:8004800-8016800	Weak transcription	Aorta	Aorta
13	chr18:8004800-8020200	Weak transcription	Adipose Nuclei	Adipose
14	chr18:8005000-8020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:8005200-8007600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:8005800-8009000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:8005800-8009200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:8006200-8012400	Weak transcription	Right Atrium	heart
19	chr18:8006600-8007600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:8006600-8007600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:8006600-8007600	Weak transcription	Brain Germinal Matrix	brain
22	chr18:8006600-8008000	Weak transcription	Brain Anterior Caudate	brain
23	chr18:8006600-8022200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr18:8006800-8007800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr18:8006800-8008000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:8006800-8008000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:8006800-8008800	Weak transcription	Left Ventricle	heart
28	chr18:8006800-8017800	Weak transcription	Right Ventricle	heart
29	chr18:8006800-8020400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:8006800-8029200	Weak transcription	Lung	lung
31	chr18:8007200-8007600	Weak transcription	A549	lung
32	chr18:8007200-8008200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr18:8007200-8020800	Weak transcription	Psoas Muscle	Psoas
34	chr18:8007400-8008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr18:8007400-8008800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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