Variant report

Variant	rs552780120
Chromosome Location	chr5:14402362-14402363
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	TCF12	chr5:14401306-14402373	SK-N-SH	brain:	n/a	n/a
2	JUND	chr5:14397332-14402457	SK-N-SH	brain:	n/a	chr5:14398493-14398507 chr5:14400452-14400461 chr5:14398516-14398530 chr5:14399615-14399622
3	MXI1	chr5:14398320-14402661	SK-N-SH	brain:	n/a	n/a
4	EP300	chr5:14398890-14402705	SK-N-SH	brain:	n/a	chr5:14400674-14400681

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105A-8	chr5:14402179-14403231	NONHSAT100534

Variant related genes	Relation type
TRIO	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3401381	chr5:14402002-14404800	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14354600-14402400	Strong transcription	Liver	Liver
2	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
3	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:14366800-14403200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:14380400-14402800	Strong transcription	Primary B cells from peripheral blood	blood
7	chr5:14387200-14405800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:14388600-14402600	Strong transcription	Fetal Intestine Large	intestine
9	chr5:14388800-14407200	Weak transcription	Small Intestine	intestine
10	chr5:14392200-14402600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:14392200-14406600	Weak transcription	Primary T cells from cord blood	blood
12	chr5:14392400-14406000	Weak transcription	Fetal Heart	heart
13	chr5:14392400-14426800	Weak transcription	Psoas Muscle	Psoas
14	chr5:14392600-14403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:14393200-14402800	Strong transcription	Placenta	Placenta
16	chr5:14393400-14402400	Strong transcription	GM12878-XiMat	blood
17	chr5:14393400-14403200	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:14393600-14413600	Strong transcription	Primary B cells from cord blood	blood
19	chr5:14393800-14403000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr5:14394400-14405200	Strong transcription	Fetal Intestine Small	intestine
21	chr5:14395200-14406600	Weak transcription	Fetal Kidney	kidney
22	chr5:14395800-14406000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:14395800-14406000	Weak transcription	Brain Substantia Nigra	brain
24	chr5:14397400-14402600	Weak transcription	Gastric	stomach
25	chr5:14397400-14402600	Weak transcription	Pancreas	Pancrea
26	chr5:14397400-14405400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:14397600-14402400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:14397600-14405200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:14397600-14405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:14397600-14406200	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:14397800-14402600	Weak transcription	Brain Angular Gyrus	brain
32	chr5:14397800-14402800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:14398200-14406000	Weak transcription	Thymus	Thymus
34	chr5:14398400-14404800	Weak transcription	Ovary	ovary
35	chr5:14398400-14406000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:14398600-14405200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:14398600-14405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:14398600-14406000	Weak transcription	Esophagus	oesophagus
39	chr5:14398800-14406200	Weak transcription	Aorta	Aorta
40	chr5:14399000-14419800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:14399600-14403200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr5:14399600-14403200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr5:14399600-14416400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr5:14399800-14403000	Strong transcription	Brain Germinal Matrix	brain
45	chr5:14399800-14403200	Strong transcription	HepG2	liver
46	chr5:14400000-14402400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr5:14400200-14413400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:14400400-14402400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:14400400-14402600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:14400400-14403000	Weak transcription	Right Ventricle	heart

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