Variant report

Variant	rs72675254
Chromosome Location	chr8:98927849-98927850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98919725..98921829-chr8:98926428..98928167,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16896429	0.81[EUR][1000 genomes]
rs4734378	0.92[EUR][1000 genomes]
rs4735508	0.91[EUR][1000 genomes]
rs4735514	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72675237	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72675238	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72675240	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72675242	0.92[EUR][1000 genomes]
rs72675249	1.00[AFR][1000 genomes]
rs72675251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675259	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72677099	1.00[AFR][1000 genomes]
rs753800	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs764568	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs930817	0.84[AMR][1000 genomes];0.89[EUR][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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98922000-98930600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:98923200-98930800	Enhancers	Fetal Muscle Leg	muscle
3	chr8:98924200-98930400	Weak transcription	Fetal Intestine Small	intestine
4	chr8:98924600-98929200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:98924800-98929200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:98925000-98928000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:98925000-98928200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:98925200-98928600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:98925200-98928800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:98925200-98928800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:98925200-98928800	Weak transcription	NH-A	brain
12	chr8:98925200-98928800	Weak transcription	NHDF-Ad	bronchial
13	chr8:98925200-98928800	Weak transcription	Osteobl	bone
14	chr8:98925200-98929000	Weak transcription	NHLF	lung
15	chr8:98925200-98929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:98925200-98930400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:98925200-98930400	Weak transcription	Left Ventricle	heart
18	chr8:98925400-98928000	Weak transcription	Fetal Kidney	kidney
19	chr8:98925400-98928800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:98925400-98928800	Weak transcription	Fetal Lung	lung
21	chr8:98925400-98929200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:98925400-98930600	Weak transcription	Placenta	Placenta
23	chr8:98925400-98933200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:98925400-98933800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:98925600-98929200	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:98925600-98929200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:98926200-98932400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:98926800-98929000	Enhancers	Liver	Liver
29	chr8:98927000-98928000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:98927000-98928200	Enhancers	Brain Hippocampus Middle	brain
31	chr8:98927000-98928600	Enhancers	Fetal Muscle Trunk	muscle
32	chr8:98927000-98929600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:98927200-98928000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:98927200-98928200	Enhancers	Brain Substantia Nigra	brain
35	chr8:98927200-98929200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:98927200-98929400	Enhancers	Adipose Nuclei	Adipose
37	chr8:98927200-98929600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:98927200-98930200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:98927200-98931200	Enhancers	Fetal Heart	heart
40	chr8:98927400-98928200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:98927400-98928800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr8:98927400-98929200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:98927400-98929400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:98927600-98928000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:98927600-98928000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr8:98927600-98928000	Enhancers	Esophagus	oesophagus
47	chr8:98927600-98928000	Enhancers	Fetal Intestine Large	intestine
48	chr8:98927600-98928000	Enhancers	Ovary	ovary
49	chr8:98927600-98928000	Enhancers	Right Atrium	heart
50	chr8:98927600-98928200	Enhancers	HUES64 Cell Line	embryonic stem cell

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