Variant report

Variant	rs565831080
Chromosome Location	chr2:54724273-54724274
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	chr2:54715431..54717877-chr2:54722811..54726356,3	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	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats 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	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv518406	chr2:54723271-54761329	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54710600-54725000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:54711600-54724400	Weak transcription	HSMMtube	muscle
4	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:54715800-54724600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:54716000-54730000	Weak transcription	NH-A	brain
13	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
14	chr2:54716400-54724600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
16	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
17	chr2:54718200-54725200	Weak transcription	Pancreas	Pancrea
18	chr2:54718200-54726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:54718200-54727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:54718600-54727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:54719000-54725200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:54719000-54725800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
24	chr2:54719400-54726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:54719800-54728000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:54719800-54728200	Weak transcription	Gastric	stomach
27	chr2:54720000-54724400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:54720000-54724600	Weak transcription	Liver	Liver
29	chr2:54721200-54726200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:54721400-54725600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:54721600-54726200	Weak transcription	NHLF	lung
32	chr2:54721800-54724600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:54722000-54724600	Weak transcription	NHDF-Ad	bronchial
34	chr2:54722000-54726600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:54722400-54724600	Weak transcription	Fetal Lung	lung
36	chr2:54722400-54724800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:54722400-54724800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:54722400-54725000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:54722600-54724400	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:54722600-54724600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:54722600-54724600	Weak transcription	Left Ventricle	heart
42	chr2:54722600-54724800	Weak transcription	Right Atrium	heart
43	chr2:54722600-54725000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:54722600-54725000	Weak transcription	Lung	lung
45	chr2:54722600-54725200	Weak transcription	Psoas Muscle	Psoas
46	chr2:54722600-54726400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:54722600-54728200	Weak transcription	Spleen	Spleen
48	chr2:54723400-54725600	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:54723400-54725800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:54723800-54724400	Enhancers	Brain Substantia Nigra	brain

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