Variant report

Variant	rs2448909
Chromosome Location	chr8:95237955-95237956
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1531208	0.92[ASN][1000 genomes]
rs1531209	0.92[ASN][1000 genomes]
rs1531210	0.92[ASN][1000 genomes]
rs1870046	0.89[ASN][1000 genomes]
rs2445704	0.84[EUR][1000 genomes]
rs2445705	0.92[ASN][1000 genomes]
rs2445707	0.90[ASN][1000 genomes]
rs2446851	0.80[EUR][1000 genomes]
rs2446852	0.81[EUR][1000 genomes]
rs2446853	0.90[ASN][1000 genomes]
rs2446856	0.87[ASN][1000 genomes]
rs2446857	0.92[ASN][1000 genomes]
rs2446858	0.92[ASN][1000 genomes]
rs2446859	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2446861	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2448908	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2448910	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2514789	0.81[EUR][1000 genomes]
rs2607061	0.92[ASN][1000 genomes]
rs2607063	0.90[ASN][1000 genomes]
rs2613208	0.84[ASN][1000 genomes]
rs2613212	0.89[ASN][1000 genomes]
rs2613213	0.86[ASN][1000 genomes]
rs2613214	0.89[ASN][1000 genomes]
rs2613215	0.89[ASN][1000 genomes]
rs2613225	0.87[ASN][1000 genomes]
rs2613229	0.92[ASN][1000 genomes]
rs2613231	0.92[ASN][1000 genomes]
rs2613233	0.90[ASN][1000 genomes]
rs2623155	0.87[ASN][1000 genomes]
rs2623156	0.87[ASN][1000 genomes]
rs2623157	0.87[ASN][1000 genomes]
rs58005557	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1022972	chr8:95189085-95245392	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95230000-95245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:95232000-95239200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:95232200-95245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:95232400-95238200	Weak transcription	Left Ventricle	heart
5	chr8:95232400-95239200	Weak transcription	HSMMtube	muscle
6	chr8:95232800-95239200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:95234600-95240400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:95234600-95240400	Enhancers	NHDF-Ad	bronchial
9	chr8:95235400-95238000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:95235800-95238200	Enhancers	NH-A	brain
11	chr8:95235800-95240200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:95236000-95238200	Enhancers	NHLF	lung
13	chr8:95236200-95238200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:95236200-95238200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:95236600-95238000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:95236800-95238200	Weak transcription	Fetal Heart	heart
17	chr8:95237000-95247000	Weak transcription	A549	lung
18	chr8:95237400-95240400	Enhancers	Brain Germinal Matrix	brain
19	chr8:95237600-95239200	Weak transcription	Hela-S3	cervix
20	chr8:95237600-95239800	Enhancers	Fetal Stomach	stomach
21	chr8:95237600-95240400	Enhancers	Fetal Muscle Trunk	muscle
22	chr8:95237600-95240400	Enhancers	Fetal Muscle Leg	muscle
23	chr8:95237800-95238800	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:95237800-95239200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:95237800-95239800	Enhancers	Fetal Lung	lung
26	chr8:95237800-95240000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:95237800-95240400	Enhancers	Cortex derived primary cultured neurospheres	brain

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