Variant report

Variant	rs530746123
Chromosome Location	chr8:105532298-105532299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105529593..105532262-chr8:105532296..105533876,2	K562	blood:

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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:105503800-105535800	Weak transcription	NHDF-Ad	bronchial
3	chr8:105509600-105535800	Weak transcription	Aorta	Aorta
4	chr8:105510200-105546200	Weak transcription	HMEC	breast
5	chr8:105510400-105539400	Weak transcription	HSMMtube	muscle
6	chr8:105511800-105532600	Weak transcription	HSMM	muscle
7	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:105512800-105542000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:105515200-105542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:105519800-105534400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:105520400-105534800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:105520600-105537400	Weak transcription	NH-A	brain
14	chr8:105520800-105536600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:105521000-105540000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:105521400-105540000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:105527200-105543000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:105527400-105535600	Weak transcription	K562	blood
20	chr8:105527600-105534000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:105527800-105549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:105530200-105532600	Enhancers	Dnd41	blood
23	chr8:105530200-105540000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:105530200-105542600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:105531400-105534400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:105531400-105544600	Weak transcription	Brain Anterior Caudate	brain
27	chr8:105531600-105540000	Weak transcription	Fetal Thymus	thymus
28	chr8:105531600-105540400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:105531600-105542200	Weak transcription	Thymus	Thymus
30	chr8:105531800-105534400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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