Variant report

Variant	rs557545016
Chromosome Location	chr14:55412385-55412386
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1038242	chr14:55398559-55444839	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3378942	chr14:55412251-55440744	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
2	chr14:55394400-55428800	Weak transcription	HSMM	muscle
3	chr14:55395200-55414800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:55395200-55422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:55395400-55415000	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
7	chr14:55402400-55414200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:55402600-55414800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:55402800-55414800	Weak transcription	Hela-S3	cervix
10	chr14:55402800-55416000	Strong transcription	Dnd41	blood
11	chr14:55403000-55413200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:55403000-55414800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:55403000-55415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:55403000-55449000	Weak transcription	Gastric	stomach
15	chr14:55403200-55414800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:55403200-55421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:55403200-55442600	Weak transcription	NHEK	skin
18	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
19	chr14:55403400-55413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:55403400-55421800	Weak transcription	HMEC	breast
21	chr14:55403600-55423800	Weak transcription	K562	blood
22	chr14:55403600-55428600	Weak transcription	HUVEC	blood vessel
23	chr14:55403800-55413400	Weak transcription	Thymus	Thymus
24	chr14:55404200-55413200	Weak transcription	Fetal Intestine Small	intestine
25	chr14:55404400-55413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:55404400-55427600	Weak transcription	Primary T cells from cord blood	blood
27	chr14:55404800-55414600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:55404800-55415200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr14:55405200-55412400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:55405200-55420200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr14:55405600-55413400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:55405800-55413400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:55405800-55414800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:55405800-55414800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:55407400-55442800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:55407600-55414800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:55407600-55427800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:55407800-55414800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:55407800-55415000	Weak transcription	Fetal Thymus	thymus
40	chr14:55408000-55421400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:55408000-55423200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:55408400-55415000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:55408400-55423600	Weak transcription	GM12878-XiMat	blood
44	chr14:55408400-55429200	Weak transcription	Fetal Lung	lung
45	chr14:55409800-55423200	Weak transcription	Primary B cells from cord blood	blood
46	chr14:55410000-55414600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:55410000-55427800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:55410400-55414000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr14:55410400-55415000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr14:55410600-55415000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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