Variant report

Variant	rs572713103
Chromosome Location	chr9:2648116-2648117
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	chr9:2642588..2644661-chr9:2646900..2649864,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv529508	chr9:2267812-2684272	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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
4	nsv916750	chr9:2430846-2826706	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv531564	chr9:2452325-2700375	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active 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
6	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv892075	chr9:2645109-2651809	Strong transcription Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv892076	chr9:2645651-2653719	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv613137	chr9:2647760-2650572	Strong transcription Weak transcription	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2627200-2648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:2633600-2656600	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:2634400-2648200	Weak transcription	Placenta	Placenta
4	chr9:2635000-2652600	Strong transcription	Dnd41	blood
5	chr9:2635200-2655000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:2635200-2656200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:2635400-2656000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:2635400-2656800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:2635400-2656800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:2635600-2655000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:2635800-2656000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:2635800-2657800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:2637400-2654400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:2638000-2654400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:2638000-2656400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr9:2638400-2655800	Strong transcription	Fetal Lung	lung
17	chr9:2638400-2656400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:2638600-2653600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:2638600-2655400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:2638600-2655800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr9:2638800-2656000	Strong transcription	Fetal Muscle Leg	muscle
22	chr9:2639000-2650800	Weak transcription	HSMM	muscle
23	chr9:2639000-2655800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr9:2639200-2655200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:2639600-2654800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:2639800-2654200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:2639800-2655200	Strong transcription	Brain Cingulate Gyrus	brain
28	chr9:2639800-2656000	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr9:2639800-2656000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:2640000-2650800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:2640000-2655000	Strong transcription	Left Ventricle	heart
32	chr9:2640000-2655600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr9:2640000-2655600	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:2640000-2662200	Weak transcription	Right Atrium	heart
35	chr9:2640200-2653800	Strong transcription	Brain Anterior Caudate	brain
36	chr9:2640200-2654200	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr9:2640200-2655400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:2640200-2656200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:2640800-2655800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:2640800-2655800	Strong transcription	Adipose Nuclei	Adipose
41	chr9:2641000-2653800	Weak transcription	HepG2	liver
42	chr9:2641000-2655600	Strong transcription	Brain Hippocampus Middle	brain
43	chr9:2641200-2654000	Strong transcription	Fetal Kidney	kidney
44	chr9:2641400-2655600	Strong transcription	Fetal Brain Female	brain
45	chr9:2641400-2668400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:2641600-2654800	Weak transcription	NHDF-Ad	bronchial
47	chr9:2642000-2654800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr9:2642000-2655600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr9:2642200-2649200	Weak transcription	Stomach Mucosa	stomach
50	chr9:2642200-2653800	Strong transcription	A549	lung

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