Variant report

Variant	rs72675249
Chromosome Location	chr8:98924642-98924643
allele	C/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:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4735514	1.00[AFR][1000 genomes]
rs72675237	1.00[AFR][1000 genomes]
rs72675238	1.00[AFR][1000 genomes]
rs72675251	1.00[AFR][1000 genomes]
rs72675254	1.00[AFR][1000 genomes]
rs72677099	1.00[AFR][1000 genomes]
rs753800	1.00[AFR][1000 genomes]
rs764568	1.00[AFR][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98904000-98927600	Weak transcription	Esophagus	oesophagus
2	chr8:98919200-98924800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:98919200-98927600	Weak transcription	Right Atrium	heart
4	chr8:98922000-98924800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:98922000-98930600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:98922600-98925600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:98923200-98926600	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:98923200-98927400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:98923200-98930800	Enhancers	Fetal Muscle Leg	muscle
10	chr8:98923800-98925400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr8:98924000-98925200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:98924000-98925200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:98924000-98925200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:98924000-98925200	Enhancers	NHDF-Ad	bronchial
15	chr8:98924000-98925400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:98924000-98925400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:98924000-98925600	Enhancers	Adipose Nuclei	Adipose
18	chr8:98924000-98925600	Enhancers	Fetal Stomach	stomach
19	chr8:98924200-98924800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr8:98924200-98925000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:98924200-98925000	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr8:98924200-98925000	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr8:98924200-98925000	Enhancers	Fetal Brain Male	brain
24	chr8:98924200-98925000	Weak transcription	Placenta	Placenta
25	chr8:98924200-98925000	Weak transcription	Stomach Mucosa	stomach
26	chr8:98924200-98925200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:98924200-98925200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:98924200-98925200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:98924200-98925200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:98924200-98925200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:98924200-98925200	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr8:98924200-98925200	Enhancers	Ovary	ovary
33	chr8:98924200-98925200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:98924200-98925200	Enhancers	NH-A	brain
35	chr8:98924200-98925200	Enhancers	NHLF	lung
36	chr8:98924200-98925400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:98924200-98925400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:98924200-98925400	Enhancers	Brain Angular Gyrus	brain
39	chr8:98924200-98925400	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr8:98924200-98925400	Enhancers	Fetal Kidney	kidney
41	chr8:98924200-98925600	Enhancers	Colon Smooth Muscle	Colon
42	chr8:98924200-98925600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:98924200-98930400	Weak transcription	Fetal Intestine Small	intestine
44	chr8:98924400-98924800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:98924400-98924800	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr8:98924400-98924800	Flanking Active TSS	Fetal Lung	lung
47	chr8:98924400-98924800	Active TSS	Stomach Smooth Muscle	stomach
48	chr8:98924400-98924800	Flanking Active TSS	Osteobl	bone
49	chr8:98924400-98925000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:98924400-98925000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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