Variant report

Variant	rs375296592
Chromosome Location	chr14:55529481-55529482
allele	C/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	POLR2A	chr14:55529180-55530130	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:55529277-55529895	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:55528959-55530084	A549	lung:	n/a	n/a
4	POLR2A	chr14:55529218-55530222	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:55529452-55529575	A549	lung:	n/a	n/a
6	POLR2A	chr14:55529204-55530095	GM12892	blood:	n/a	n/a
7	POLR2A	chr14:55529185-55530225	GM12892	blood:	n/a	n/a
8	POLR2A	chr14:55529395-55529593	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr14:55529228-55529633	K562	blood:	n/a	n/a
10	POLR2A	chr14:55529421-55529782	MCF-7	breast:	n/a	n/a
11	POLR2A	chr14:55529259-55530099	GM12892	blood:	n/a	n/a
12	POLR2A	chr14:55529196-55530165	GM12892	blood:	n/a	n/a
13	ZNF263	chr14:55529284-55530090	HEK293-T-REx	kidney:	n/a	chr14:55529832-55529853
14	POLR2A	chr14:55529458-55530101	GM12891	blood:	n/a	n/a
15	POLR2A	chr14:55529385-55529655	MCF-7	breast:	n/a	n/a
16	POLR2A	chr14:55528980-55530061	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:54907732..54909904-chr14:55529224..55531676,2	K562	blood:

Variant related genes	Relation type
MAPK1IP1L	TF binding region
ENSG00000100528	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv977468	chr14:55529336-55531777	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55519600-55534400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55519600-55538000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:55520200-55529600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:55520200-55538400	Weak transcription	Fetal Kidney	kidney
5	chr14:55520400-55538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:55520600-55533600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:55520600-55535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:55520600-55538000	Weak transcription	Psoas Muscle	Psoas
9	chr14:55520600-55538600	Weak transcription	Fetal Brain Male	brain
10	chr14:55520800-55534800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:55520800-55535200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:55521000-55529600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:55521600-55535400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:55521600-55535400	Strong transcription	NHEK	skin
15	chr14:55522000-55535600	Strong transcription	Fetal Thymus	thymus
16	chr14:55522600-55529600	Weak transcription	Right Atrium	heart
17	chr14:55522600-55532200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:55522600-55536600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:55523200-55533200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:55523600-55533600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:55523600-55535200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr14:55524200-55535400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:55524400-55533400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:55524400-55536600	Strong transcription	Osteobl	bone
25	chr14:55524600-55533600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:55524600-55533600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:55524600-55534800	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr14:55524800-55529600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr14:55524800-55531800	Strong transcription	HMEC	breast
30	chr14:55524800-55535600	Strong transcription	A549	lung
31	chr14:55524800-55535800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:55526000-55534800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:55526200-55536000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr14:55526400-55529600	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:55526400-55538000	Weak transcription	Small Intestine	intestine
36	chr14:55526600-55531000	Strong transcription	Fetal Intestine Small	intestine
37	chr14:55526600-55535800	Strong transcription	Dnd41	blood
38	chr14:55526600-55537600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:55526600-55538400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr14:55527200-55532800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:55527200-55533600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:55527400-55529800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr14:55527400-55530400	Strong transcription	Fetal Stomach	stomach
44	chr14:55527400-55530800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:55527400-55531000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:55527400-55531000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:55527400-55532600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:55527400-55533400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:55527400-55535200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:55527600-55531400	Strong transcription	Fetal Intestine Large	intestine

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