Variant report

Variant	rs554708253
Chromosome Location	chr14:39632005-39632006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39628408..39631487-chr14:39631812..39634593,3	K562	blood:
2	chr14:39631838..39633415-chr14:39636342..39639514,3	MCF-7	breast:
3	chr14:39631765..39633728-chr14:39734640..39737090,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258941	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1806619	chr14:39630053-39633213	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv18329	chr14:39631919-39633300	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3528706	chr14:39631958-39633417	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3528730	chr14:39631987-39633396	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3528695	chr14:39631994-39633358	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3528684	chr14:39632005-39633349	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
2	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
4	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
5	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:39611400-39638000	Weak transcription	A549	lung
9	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:39616200-39632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:39616200-39632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:39616200-39632600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:39616200-39637000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:39616800-39632200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:39616800-39636400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr14:39617000-39632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:39617000-39634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:39617000-39636200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:39617200-39635800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:39617600-39632400	Strong transcription	Fetal Thymus	thymus
23	chr14:39617600-39637800	Weak transcription	Psoas Muscle	Psoas
24	chr14:39617800-39637400	Weak transcription	K562	blood
25	chr14:39619600-39636200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:39619600-39637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:39619800-39636200	Strong transcription	Fetal Stomach	stomach
28	chr14:39621000-39638400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:39622000-39633600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:39624400-39638000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:39625000-39636000	Strong transcription	Placenta	Placenta
32	chr14:39626200-39632200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:39626400-39634200	Strong transcription	Fetal Lung	lung
34	chr14:39626800-39637600	Weak transcription	Fetal Heart	heart
35	chr14:39626800-39637800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:39627000-39635400	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:39627000-39637200	Weak transcription	Brain Angular Gyrus	brain
38	chr14:39627000-39637400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:39627000-39637600	Weak transcription	HSMMtube	muscle
40	chr14:39627000-39637800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:39627000-39637800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:39627000-39638800	Weak transcription	Gastric	stomach
43	chr14:39627200-39634600	Weak transcription	Fetal Kidney	kidney
44	chr14:39627200-39638600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:39628200-39633800	Strong transcription	HepG2	liver
46	chr14:39628200-39637600	Weak transcription	NHDF-Ad	bronchial
47	chr14:39628400-39635600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:39628800-39632200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr14:39628800-39635000	Strong transcription	Fetal Intestine Small	intestine
50	chr14:39629000-39632200	Strong transcription	Spleen	Spleen

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