Variant report

Variant	rs527969356
Chromosome Location	chr5:58654663-58654664
allele	G/T
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	JUND	chr5:58654247-58654686	A549	lung:	n/a	n/a
3	BCL3	chr5:58652380-58654882	A549	lung:	n/a	chr5:58654065-58654072
4	TCF12	chr5:58652080-58654909	A549	lung:	n/a	chr5:58654406-58654414
5	EP300	chr5:58652125-58654870	A549	lung:	n/a	chr5:58654367-58654381 chr5:58654145-58654155 chr5:58652862-58652871
6	SP1	chr5:58652536-58654758	A549	lung:	n/a	chr5:58654561-58654575
7	REST	chr5:58652550-58654735	A549	lung:	n/a	n/a
8	POLR2A	chr5:58654353-58654664	A549	lung:	n/a	n/a
9	SP1	chr5:58652205-58654846	A549	lung:	n/a	chr5:58654561-58654575
10	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
11	EP300	chr5:58652087-58654835	A549	lung:	n/a	chr5:58654367-58654381 chr5:58654145-58654155 chr5:58652862-58652871
12	ZNF263	chr5:58652408-58654786	HEK293-T-REx	kidney:	n/a	chr5:58654513-58654522
13	CEBPB	chr5:58652378-58654781	A549	lung:	n/a	chr5:58654387-58654404 chr5:58653463-58653476
14	MAX	chr5:58652118-58654843	A549	lung:	n/a	chr5:58652436-58652445
15	NR3C1	chr5:58654240-58654730	A549	lung:	n/a	n/a
16	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58652200-58654800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:58652200-58654800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:58652200-58655000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:58652200-58655000	Enhancers	Fetal Intestine Small	intestine
5	chr5:58652200-58656200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:58652200-58656600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:58652400-58654800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:58652400-58655000	Enhancers	Stomach Mucosa	stomach
9	chr5:58652400-58655200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:58652400-58655200	Enhancers	Fetal Kidney	kidney
11	chr5:58652400-58655800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:58652400-58656400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:58652600-58654800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:58652600-58654800	Enhancers	Gastric	stomach
15	chr5:58652600-58654800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr5:58652600-58655000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:58652600-58655000	Enhancers	Brain Hippocampus Middle	brain
18	chr5:58652600-58655000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:58652600-58655200	Enhancers	Fetal Brain Male	brain
20	chr5:58652600-58655800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:58652800-58656400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:58653000-58669400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:58653200-58654800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:58653200-58656000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:58653400-58655600	Weak transcription	Psoas Muscle	Psoas
26	chr5:58653600-58654800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:58653600-58654800	Enhancers	Brain Anterior Caudate	brain
28	chr5:58653600-58655000	Enhancers	Fetal Brain Female	brain
29	chr5:58653600-58655600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:58653600-58657800	Enhancers	Fetal Heart	heart
31	chr5:58653800-58654800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:58653800-58655000	Enhancers	Brain Germinal Matrix	brain
33	chr5:58653800-58655200	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:58653800-58655200	Flanking Active TSS	A549	lung
35	chr5:58654000-58654800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr5:58654000-58657200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr5:58654200-58656000	Weak transcription	Brain Angular Gyrus	brain
38	chr5:58654400-58655000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:58654400-58655200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:58654400-58655600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:58654400-58656200	Enhancers	Colon Smooth Muscle	Colon
42	chr5:58654400-58667000	Weak transcription	Fetal Intestine Large	intestine
43	chr5:58654600-58655000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:58654600-58655600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:58654600-58655600	Weak transcription	Fetal Stomach	stomach
46	chr5:58654600-58655600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:58654600-58655800	Weak transcription	Right Atrium	heart
48	chr5:58654600-58656000	Weak transcription	Left Ventricle	heart
49	chr5:58654600-58656000	Enhancers	Rectal Smooth Muscle	rectum
50	chr5:58654600-58656400	Enhancers	Fetal Lung	lung

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