Variant report

Variant	rs530132313
Chromosome Location	chr1:180882448-180882449
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180874718..180876670-chr1:180880822..180883224,2	K562	blood:

Variant related genes	Relation type
ENSG00000225857	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3436549	chr1:180880954-180883502	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180880800-180882800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:180880800-180882800	Active TSS	Brain Angular Gyrus	brain
3	chr1:180880800-180882800	Active TSS	Fetal Brain Female	brain
4	chr1:180880800-180883000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:180880800-180883000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:180880800-180883200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr1:180880800-180883400	Active TSS	HSMM	muscle
8	chr1:180881000-180882600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:180881000-180882600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:180881000-180882800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:180881000-180882800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:180881000-180882800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:180881000-180882800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:180881000-180882800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:180881000-180882800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:180881000-180882800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:180881000-180882800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:180881000-180882800	Active TSS	Fetal Lung	lung
19	chr1:180881000-180882800	Active TSS	Rectal Smooth Muscle	rectum
20	chr1:180881000-180882800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr1:180881000-180883000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:180881000-180883000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:180881000-180883000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:180881000-180883000	Active TSS	Aorta	Aorta
25	chr1:180881000-180883000	Active TSS	Fetal Kidney	kidney
26	chr1:180881000-180883000	Active TSS	Left Ventricle	heart
27	chr1:180881000-180883000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr1:180881000-180883200	Active TSS	Right Atrium	heart
29	chr1:180881000-180883400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:180881000-180883400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:180881000-180883400	Active TSS	NHDF-Ad	bronchial
32	chr1:180881200-180882600	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr1:180881200-180882800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:180881200-180882800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:180881200-180882800	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr1:180881200-180882800	Active TSS	Brain Anterior Caudate	brain
37	chr1:180881200-180882800	Active TSS	Ovary	ovary
38	chr1:180881200-180882800	Active TSS	HSMMtube	muscle
39	chr1:180881200-180883000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:180881200-180883000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr1:180881200-180883000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:180881200-180883000	Active TSS	Brain Cingulate Gyrus	brain
43	chr1:180881200-180883000	Active TSS	Brain Hippocampus Middle	brain
44	chr1:180881200-180883000	Active TSS	Colon Smooth Muscle	Colon
45	chr1:180881200-180883000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:180881200-180883000	Active TSS	Right Ventricle	heart
47	chr1:180881200-180883000	Active TSS	Osteobl	bone
48	chr1:180881200-180883400	Active TSS	Stomach Smooth Muscle	stomach
49	chr1:180881400-180882600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:180881400-180882600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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