Variant report

Variant	rs145474227
Chromosome Location	chr5:60731655-60731656
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	esv2753894	chr5:60731458-60777345	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60711000-60735800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:60713400-60732800	Weak transcription	Small Intestine	intestine
3	chr5:60719800-60745200	Weak transcription	NHDF-Ad	bronchial
4	chr5:60720000-60733800	Weak transcription	NHLF	lung
5	chr5:60720000-60736400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:60720000-60737400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:60720400-60734000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:60720600-60743200	Weak transcription	HSMMtube	muscle
9	chr5:60721000-60733000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:60725600-60732600	Weak transcription	Fetal Heart	heart
11	chr5:60725600-60737400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:60725800-60732800	Weak transcription	Esophagus	oesophagus
13	chr5:60725800-60732800	Weak transcription	Pancreas	Pancrea
14	chr5:60726000-60732800	Weak transcription	Left Ventricle	heart
15	chr5:60726000-60732800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:60726000-60733800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:60726000-60736600	Weak transcription	Right Atrium	heart
18	chr5:60726800-60745600	Weak transcription	Stomach Mucosa	stomach
19	chr5:60727000-60732000	Weak transcription	Liver	Liver
20	chr5:60728400-60732400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:60728400-60732600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:60728400-60732600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:60728400-60733400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:60728400-60733600	Weak transcription	Fetal Brain Male	brain
25	chr5:60728400-60734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:60728400-60734000	Weak transcription	HSMM	muscle
27	chr5:60728400-60737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:60728400-60745400	Weak transcription	Ovary	ovary
29	chr5:60728600-60732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:60728600-60732800	Weak transcription	HMEC	breast
31	chr5:60728600-60732800	Weak transcription	NHEK	skin
32	chr5:60728600-60734000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:60728600-60734000	Weak transcription	Brain Germinal Matrix	brain
34	chr5:60728600-60737400	Weak transcription	Fetal Lung	lung
35	chr5:60728600-60737400	Weak transcription	Fetal Stomach	stomach
36	chr5:60728800-60732800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:60728800-60733800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:60728800-60737600	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:60729000-60732200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:60729000-60732600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:60729000-60737000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:60729600-60732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:60729600-60733000	Weak transcription	Gastric	stomach
44	chr5:60730000-60732800	Weak transcription	Psoas Muscle	Psoas
45	chr5:60730200-60737600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:60730400-60733000	Enhancers	Brain Angular Gyrus	brain
47	chr5:60730400-60733200	Enhancers	Brain Cingulate Gyrus	brain
48	chr5:60730400-60735800	Enhancers	Brain Substantia Nigra	brain
49	chr5:60731000-60732000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:60731000-60732200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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