Variant report

Variant	rs549117976
Chromosome Location	chr8:124670230-124670231
allele	A/G
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	chr8:124662032..124665488-chr8:124668654..124670370,3	MCF-7	breast:
3	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124666200-124674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:124666400-124671200	Enhancers	Fetal Muscle Leg	muscle
3	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:124667400-124671400	Enhancers	Colon Smooth Muscle	Colon
5	chr8:124667600-124670800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:124668200-124671000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:124668200-124671200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:124668200-124673200	Weak transcription	Esophagus	oesophagus
9	chr8:124668200-124673600	Weak transcription	Pancreas	Pancrea
10	chr8:124668400-124680800	Weak transcription	Fetal Heart	heart
11	chr8:124669400-124671000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:124669400-124671200	Enhancers	Fetal Stomach	stomach
13	chr8:124669400-124671400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:124669400-124671600	Enhancers	Osteobl	bone
15	chr8:124669600-124670400	Enhancers	Aorta	Aorta
16	chr8:124669600-124670400	Enhancers	Right Atrium	heart
17	chr8:124669600-124671000	Enhancers	Fetal Intestine Large	intestine
18	chr8:124669600-124671200	Enhancers	Fetal Intestine Small	intestine
19	chr8:124669600-124671200	Enhancers	NH-A	brain
20	chr8:124669800-124670400	Enhancers	Fetal Muscle Trunk	muscle
21	chr8:124669800-124670400	Enhancers	Left Ventricle	heart
22	chr8:124669800-124670600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:124669800-124670600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:124669800-124670600	Enhancers	Placenta	Placenta
25	chr8:124669800-124670600	Flanking Active TSS	HepG2	liver
26	chr8:124669800-124671200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:124669800-124671400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:124669800-124671400	Enhancers	Fetal Kidney	kidney
29	chr8:124669800-124671600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:124669800-124671800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:124669800-124673400	Weak transcription	HMEC	breast
32	chr8:124670000-124670400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:124670000-124670400	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:124670000-124670400	Enhancers	Ovary	ovary
35	chr8:124670000-124670400	Enhancers	HSMMtube	muscle
36	chr8:124670000-124670800	Enhancers	Brain Germinal Matrix	brain
37	chr8:124670000-124670800	Enhancers	Small Intestine	intestine
38	chr8:124670000-124671000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:124670000-124671000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr8:124670000-124671200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:124670000-124671200	Enhancers	NHLF	lung
42	chr8:124670000-124671400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:124670000-124671400	Enhancers	Brain Hippocampus Middle	brain
44	chr8:124670000-124671400	Enhancers	HSMM	muscle
45	chr8:124670000-124671600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:124670000-124671600	Enhancers	NHDF-Ad	bronchial
47	chr8:124670000-124673600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:124670000-124673600	Weak transcription	Psoas Muscle	Psoas
49	chr8:124670200-124670400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr8:124670200-124670800	Enhancers	Stomach Smooth Muscle	stomach

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