Variant report

Variant	rs571851752
Chromosome Location	chr3:48775842-48775843
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	chr3:48774382..48777198-chr3:48777431..48780356,3	K562	blood:

Variant related genes	Relation type
ENSG00000068745	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv3407876	chr3:48774454-48823998	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48771000-48776200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:48771200-48776000	Weak transcription	HMEC	breast
3	chr3:48772800-48777200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:48772800-48780200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:48773000-48776400	Weak transcription	NHEK	skin
6	chr3:48773200-48776000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:48773200-48776000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:48773200-48777000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:48773200-48777000	Weak transcription	HSMMtube	muscle
10	chr3:48773200-48777200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:48773400-48776200	Weak transcription	Colonic Mucosa	Colon
12	chr3:48773400-48776200	Weak transcription	Small Intestine	intestine
13	chr3:48773400-48776400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:48773400-48776800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:48773400-48777000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:48773400-48777000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:48773400-48777000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:48773600-48776000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:48773600-48777200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:48773600-48777200	Weak transcription	NHDF-Ad	bronchial
21	chr3:48773800-48777000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:48774000-48777000	Enhancers	Duodenum Mucosa	Duodenum
23	chr3:48774200-48776400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr3:48774200-48777200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:48774600-48776200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr3:48774800-48776000	Enhancers	Right Atrium	heart
27	chr3:48774800-48776800	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr3:48774800-48777200	Enhancers	Liver	Liver
29	chr3:48775000-48776800	Enhancers	Brain Anterior Caudate	brain
30	chr3:48775000-48776800	Enhancers	Brain Substantia Nigra	brain
31	chr3:48775000-48777000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:48775000-48777200	Enhancers	Brain Cingulate Gyrus	brain
33	chr3:48775000-48777200	Enhancers	Stomach Mucosa	stomach
34	chr3:48775000-48777600	Enhancers	Fetal Lung	lung
35	chr3:48775000-48777600	Enhancers	Fetal Stomach	stomach
36	chr3:48775000-48778200	Enhancers	Fetal Intestine Small	intestine
37	chr3:48775000-48778200	Enhancers	Fetal Kidney	kidney
38	chr3:48775000-48778400	Enhancers	Right Ventricle	heart
39	chr3:48775200-48776000	Weak transcription	Gastric	stomach
40	chr3:48775200-48776000	Weak transcription	Left Ventricle	heart
41	chr3:48775200-48776000	Weak transcription	Spleen	Spleen
42	chr3:48775200-48776000	Weak transcription	HepG2	liver
43	chr3:48775200-48776200	Weak transcription	Brain Hippocampus Middle	brain
44	chr3:48775200-48777000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr3:48775400-48776400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:48775400-48776800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:48775400-48776800	Weak transcription	GM12878-XiMat	blood
48	chr3:48775400-48777200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr3:48775400-48777200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:48775600-48776000	Enhancers	Brain Angular Gyrus	brain

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