Variant report

Variant	rs12682048
Chromosome Location	chr8:98922556-98922557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98921821..98924732-chr8:98928990..98931932,2	K562	blood:
2	chr8:98914878..98916750-chr8:98921668..98923408,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10087445	0.90[EUR][1000 genomes]
rs10108176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290472	0.84[EUR][1000 genomes]
rs2444905	0.91[EUR][1000 genomes]
rs2512066	0.82[EUR][1000 genomes]
rs2513821	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28524918	0.90[EUR][1000 genomes]
rs6989895	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7016024	0.94[AFR][1000 genomes];0.87[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98903600-98924200	Weak transcription	Fetal Kidney	kidney
2	chr8:98904000-98927600	Weak transcription	Esophagus	oesophagus
3	chr8:98913400-98923200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:98914000-98924200	Weak transcription	Fetal Lung	lung
5	chr8:98915000-98923400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr8:98916800-98924000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:98919000-98924000	Weak transcription	Brain Anterior Caudate	brain
8	chr8:98919000-98924000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:98919000-98924200	Weak transcription	Ovary	ovary
10	chr8:98919200-98924000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:98919200-98924000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:98919200-98924000	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:98919200-98924000	Weak transcription	Brain Substantia Nigra	brain
14	chr8:98919200-98924200	Weak transcription	Brain Angular Gyrus	brain
15	chr8:98919200-98924800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:98919200-98927600	Weak transcription	Right Atrium	heart
17	chr8:98921200-98923000	Enhancers	NHDF-Ad	bronchial
18	chr8:98921200-98923400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:98921800-98924000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:98922000-98923000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:98922000-98923200	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:98922000-98924000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:98922000-98924000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:98922000-98924000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:98922000-98924000	Weak transcription	Osteobl	bone
26	chr8:98922000-98924200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:98922000-98924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:98922000-98924200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:98922000-98924200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:98922000-98924200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:98922000-98924200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:98922000-98924200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:98922000-98924200	Weak transcription	NH-A	brain
34	chr8:98922000-98924600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:98922000-98924600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:98922000-98924800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:98922000-98930600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:98922200-98922600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:98922200-98922600	Weak transcription	Fetal Stomach	stomach
40	chr8:98922200-98922600	Weak transcription	NHLF	lung

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