Variant report

Variant	rs13248439
Chromosome Location	chr8:98932590-98932591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12676720	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13256241	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290470	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2444905	0.81[ASN][1000 genomes]
rs2444907	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2512069	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513822	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513834	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35139704	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs753799	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98925400-98933200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:98925400-98933800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:98928200-98933200	Weak transcription	Brain Substantia Nigra	brain
4	chr8:98929200-98944800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:98929400-98934800	Weak transcription	Adipose Nuclei	Adipose
6	chr8:98929600-98932800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:98929600-98935000	Weak transcription	Fetal Kidney	kidney
8	chr8:98929600-98938000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:98929800-98933000	Weak transcription	Brain Anterior Caudate	brain
10	chr8:98929800-98933000	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:98929800-98933200	Weak transcription	Fetal Stomach	stomach
12	chr8:98929800-98936600	Weak transcription	Fetal Lung	lung
13	chr8:98929800-98937800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:98930000-98933200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:98930600-98934000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:98930800-98933200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:98930800-98950000	Weak transcription	Right Ventricle	heart
18	chr8:98931000-98933200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:98931000-98933800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:98931000-98934600	Weak transcription	Right Atrium	heart
21	chr8:98931000-98938600	Weak transcription	Placenta	Placenta
22	chr8:98931000-98940800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:98931200-98933000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:98931200-98933800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:98931200-98934000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:98931200-98934000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:98931200-98934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:98931200-98934800	Weak transcription	Osteobl	bone
29	chr8:98931200-98935000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:98931200-98935000	Weak transcription	NHDF-Ad	bronchial
31	chr8:98931200-98938000	Weak transcription	NH-A	brain
32	chr8:98931200-98938400	Weak transcription	Left Ventricle	heart
33	chr8:98931200-98944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:98931400-98933800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:98931400-98934000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:98931400-98934600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:98931400-98935000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:98931600-98937800	Weak transcription	Fetal Intestine Large	intestine
39	chr8:98931600-98938200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:98931800-98943200	Enhancers	Fetal Muscle Leg	muscle
41	chr8:98932000-98933800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:98932000-98940800	Weak transcription	Ovary	ovary
43	chr8:98932200-98943400	Weak transcription	Pancreas	Pancrea
44	chr8:98932400-98932800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:98932400-98934800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:98932400-98936400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:98932400-98940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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