Variant report

Variant	rs547804275
Chromosome Location	chr10:49731182-49731183
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49730645..49732196-chr10:49747881..49750168,2	K562	blood:
2	chr10:49731096..49734201-chr10:49864172..49866367,3	K562	blood:
3	chr10:49729429..49732074-chr10:49751131..49754040,2	K562	blood:
4	chr10:49514209..49516197-chr10:49729789..49731994,3	K562	blood:
5	chr10:49684170..49687660-chr10:49728231..49732129,4	K562	blood:
6	chr10:49514209..49515853-chr10:49729935..49731994,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3392447	chr10:49731171-49733719	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49721400-49732000	Weak transcription	HMEC	breast
3	chr10:49729600-49731200	Bivalent Enhancer	Fetal Stomach	stomach
4	chr10:49729600-49731200	Enhancers	HSMM	muscle
5	chr10:49729600-49731200	Enhancers	HSMMtube	muscle
6	chr10:49729800-49731200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:49729800-49731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:49730000-49731200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:49730000-49731200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:49730000-49731200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr10:49730000-49731800	Enhancers	Brain Angular Gyrus	brain
12	chr10:49730000-49731800	Enhancers	Brain Substantia Nigra	brain
13	chr10:49730200-49731200	Enhancers	Brain Hippocampus Middle	brain
14	chr10:49730200-49731200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr10:49730200-49731200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr10:49730200-49731200	Enhancers	Ovary	ovary
17	chr10:49730200-49731600	Flanking Active TSS	K562	blood
18	chr10:49730400-49731200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr10:49730400-49731200	Enhancers	Right Ventricle	heart
20	chr10:49730400-49731600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr10:49730400-49731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:49730600-49731200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:49730600-49731200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr10:49730600-49731800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:49730600-49732000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:49730600-49732200	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr10:49730800-49731200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:49730800-49731200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr10:49730800-49731200	Enhancers	Fetal Kidney	kidney
30	chr10:49730800-49731400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr10:49730800-49731400	Bivalent Enhancer	Fetal Heart	heart
32	chr10:49730800-49731400	Flanking Active TSS	Fetal Lung	lung
33	chr10:49730800-49732800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr10:49730800-49732800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:49731000-49731200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr10:49731000-49731200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:49731000-49731200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:49731000-49731200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:49731000-49731200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr10:49731000-49731200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:49731000-49731200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:49731000-49731200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:49731000-49731200	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr10:49731000-49731200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
45	chr10:49731000-49731200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr10:49731000-49731200	Bivalent/Poised TSS	Fetal Brain Male	brain
47	chr10:49731000-49731200	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr10:49731000-49731200	Bivalent Enhancer	Fetal Thymus	thymus
49	chr10:49731000-49731200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr10:49731000-49731200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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