Variant report

Variant	rs562953591
Chromosome Location	chr8:124669749-124669750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124661695..124666565-chr8:124667806..124672490,5	MCF-7	breast:
2	chr8:124668534..124670111-chr8:124695984..124698883,2	K562	blood:
3	chr8:124662032..124665488-chr8:124668654..124670370,3	MCF-7	breast:
4	chr8:124668666..124670546-chr8:124672499..124675168,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1841904	chr8:124664130-124676037	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3324945	chr8:124669371-124673969	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:124666200-124674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:124666400-124669800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:124666400-124671200	Enhancers	Fetal Muscle Leg	muscle
5	chr8:124666600-124669800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:124666800-124670000	Weak transcription	HSMM	muscle
7	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:124667000-124670000	Weak transcription	NHLF	lung
9	chr8:124667000-124670200	Weak transcription	Brain Anterior Caudate	brain
10	chr8:124667400-124671400	Enhancers	Colon Smooth Muscle	Colon
11	chr8:124667600-124670000	Weak transcription	HSMMtube	muscle
12	chr8:124667600-124670200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:124667600-124670200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:124667600-124670200	Weak transcription	Fetal Brain Male	brain
15	chr8:124667600-124670800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:124667800-124669800	Weak transcription	Placenta	Placenta
17	chr8:124667800-124670000	Weak transcription	NHDF-Ad	bronchial
18	chr8:124667800-124670200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:124668000-124669800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:124668000-124670000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:124668200-124669800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:124668200-124669800	Weak transcription	Colonic Mucosa	Colon
23	chr8:124668200-124669800	Weak transcription	Lung	lung
24	chr8:124668200-124670000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:124668200-124671000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:124668200-124671200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:124668200-124673200	Weak transcription	Esophagus	oesophagus
28	chr8:124668200-124673600	Weak transcription	Pancreas	Pancrea
29	chr8:124668400-124669800	Weak transcription	Left Ventricle	heart
30	chr8:124668400-124670000	Weak transcription	Ovary	ovary
31	chr8:124668400-124680800	Weak transcription	Fetal Heart	heart
32	chr8:124669200-124669800	Enhancers	NHEK	skin
33	chr8:124669400-124669800	Enhancers	HMEC	breast
34	chr8:124669400-124670000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:124669400-124670200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:124669400-124671000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:124669400-124671200	Enhancers	Fetal Stomach	stomach
38	chr8:124669400-124671400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:124669400-124671600	Enhancers	Osteobl	bone
40	chr8:124669600-124669800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:124669600-124669800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr8:124669600-124669800	Enhancers	HepG2	liver
43	chr8:124669600-124670000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:124669600-124670000	Enhancers	Psoas Muscle	Psoas
45	chr8:124669600-124670400	Enhancers	Aorta	Aorta
46	chr8:124669600-124670400	Enhancers	Right Atrium	heart
47	chr8:124669600-124671000	Enhancers	Fetal Intestine Large	intestine
48	chr8:124669600-124671200	Enhancers	Fetal Intestine Small	intestine
49	chr8:124669600-124671200	Enhancers	NH-A	brain

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