Variant report

Variant	rs188390716
Chromosome Location	chr5:58654181-58654182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr5:58653155-58654805	A549	lung:	n/a	chr5:58654065-58654072
2	BCL3	chr5:58652380-58654882	A549	lung:	n/a	chr5:58654065-58654072
3	TCF12	chr5:58652080-58654909	A549	lung:	n/a	chr5:58654406-58654414
4	EP300	chr5:58652125-58654870	A549	lung:	n/a	chr5:58654367-58654381 chr5:58654145-58654155 chr5:58652862-58652871
5	SP1	chr5:58652536-58654758	A549	lung:	n/a	chr5:58654561-58654575
6	REST	chr5:58652550-58654735	A549	lung:	n/a	n/a
7	SP1	chr5:58652205-58654846	A549	lung:	n/a	chr5:58654561-58654575
8	GATA3	chr5:58652110-58654936	A549	lung:	n/a	chr5:58652911-58652921 chr5:58654911-58654920 chr5:58652912-58652924 chr5:58654060-58654076 chr5:58652566-58652576 chr5:58654798-58654806 chr5:58652914-58652921
9	EP300	chr5:58652087-58654835	A549	lung:	n/a	chr5:58654367-58654381 chr5:58654145-58654155 chr5:58652862-58652871
10	ZNF263	chr5:58652408-58654786	HEK293-T-REx	kidney:	n/a	chr5:58654513-58654522
11	CEBPB	chr5:58652378-58654781	A549	lung:	n/a	chr5:58654387-58654404 chr5:58653463-58653476
12	KAP1	chr5:58652373-58654510	U2OS	brain:	n/a	n/a
13	MAX	chr5:58652118-58654843	A549	lung:	n/a	chr5:58652436-58652445
14	SIX5	chr5:58652647-58654748	A549	lung:	n/a	n/a

Variant related genes	Relation type
PDE4D	TF binding region

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	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv881704	chr5:58653383-58675538	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58646200-58654400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58648000-58654200	Weak transcription	Ovary	ovary
3	chr5:58649400-58654200	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr5:58652000-58654400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:58652200-58654400	Enhancers	Fetal Lung	lung
6	chr5:58652200-58654800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:58652200-58654800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:58652200-58655000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:58652200-58655000	Enhancers	Fetal Intestine Small	intestine
10	chr5:58652200-58656200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:58652200-58656600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:58652400-58654400	Enhancers	Fetal Intestine Large	intestine
13	chr5:58652400-58654800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:58652400-58655000	Enhancers	Stomach Mucosa	stomach
15	chr5:58652400-58655200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:58652400-58655200	Enhancers	Fetal Kidney	kidney
17	chr5:58652400-58655800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:58652400-58656400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:58652600-58654200	Enhancers	Brain Angular Gyrus	brain
20	chr5:58652600-58654600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:58652600-58654600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:58652600-58654600	Enhancers	Fetal Muscle Leg	muscle
23	chr5:58652600-58654600	Enhancers	Fetal Stomach	stomach
24	chr5:58652600-58654600	Enhancers	Fetal Thymus	thymus
25	chr5:58652600-58654600	Enhancers	Pancreas	Pancrea
26	chr5:58652600-58654800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:58652600-58654800	Enhancers	Gastric	stomach
28	chr5:58652600-58654800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr5:58652600-58655000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:58652600-58655000	Enhancers	Brain Hippocampus Middle	brain
31	chr5:58652600-58655000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr5:58652600-58655200	Enhancers	Fetal Brain Male	brain
33	chr5:58652600-58655800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:58652800-58654600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:58652800-58654600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:58652800-58656400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:58653000-58654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:58653000-58654400	Weak transcription	Left Ventricle	heart
39	chr5:58653000-58654600	Enhancers	Right Atrium	heart
40	chr5:58653000-58669400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:58653200-58654600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:58653200-58654800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:58653200-58656000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:58653400-58654400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:58653400-58654400	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr5:58653400-58654600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr5:58653400-58655600	Weak transcription	Psoas Muscle	Psoas
48	chr5:58653600-58654400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr5:58653600-58654600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:58653600-58654600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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