Variant report

Variant	rs552125258
Chromosome Location	chr20:24630127-24630128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:24448836..24451309-chr20:24629831..24631551,2	MCF-7	breast:
2	chr20:24629904..24632760-chr20:24759535..24761078,2	MCF-7	breast:
3	chr20:24629731..24632578-chr20:24657556..24659618,3	MCF-7	breast:
4	chr20:24612466..24614630-chr20:24629800..24632618,2	MCF-7	breast:
5	chr20:24629448..24631960-chr20:24674530..24677062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101463	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv912824	chr20:24612808-24639916	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24615400-24633800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr20:24616200-24639600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr20:24616400-24630200	Weak transcription	Brain Angular Gyrus	brain
4	chr20:24620000-24641200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:24625200-24630600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:24625600-24633800	Weak transcription	Spleen	Spleen
7	chr20:24627400-24630200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr20:24628000-24633600	Enhancers	Fetal Brain Male	brain
9	chr20:24628600-24630800	Enhancers	Brain Substantia Nigra	brain
10	chr20:24628600-24631000	Enhancers	Brain Hippocampus Middle	brain
11	chr20:24628600-24631600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:24628600-24631800	Weak transcription	HMEC	breast
13	chr20:24628800-24631000	Enhancers	Primary B cells from peripheral blood	blood
14	chr20:24629000-24630200	Weak transcription	Colon Smooth Muscle	Colon
15	chr20:24629000-24633600	Enhancers	NHLF	lung
16	chr20:24629200-24630200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr20:24629200-24631000	Enhancers	GM12878-XiMat	blood
18	chr20:24629200-24634600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr20:24629200-24642600	Weak transcription	Right Atrium	heart
20	chr20:24629400-24630600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr20:24629400-24630800	Weak transcription	Fetal Muscle Leg	muscle
22	chr20:24629400-24632600	Enhancers	Fetal Brain Female	brain
23	chr20:24629400-24641000	Weak transcription	Right Ventricle	heart
24	chr20:24629600-24631000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr20:24629800-24630400	Weak transcription	Brain Anterior Caudate	brain
26	chr20:24630000-24630400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:24630000-24630600	Enhancers	Osteobl	bone
28	chr20:24630000-24631000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr20:24630000-24631800	Enhancers	Fetal Stomach	stomach

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