Variant report

Variant	rs75593358
Chromosome Location	chr14:55514616-55514617
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:55513979-55514857	SK-N-MC	brain:	n/a	n/a
2	CEBPB	chr14:55514590-55514790	K562	blood:	n/a	n/a
3	POLR2A	chr14:55514459-55514983	GM12892	blood:	n/a	n/a
4	CEBPB	chr14:55514573-55514744	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55493972..55498765-chr14:55510765..55514879,5	K562	blood:
2	chr14:55509588..55512063-chr14:55512122..55515108,3	K562	blood:
3	chr14:55513055..55515662-chr3:156536623..156538871,2	MCF-7	breast:
4	chr14:55492422..55495780-chr14:55511028..55514664,4	MCF-7	breast:
5	chr14:55491083..55496744-chr14:55514437..55523536,23	MCF-7	breast:

No data

Variant related genes	Relation type
MAPK1IP1L	TF binding region
ENSG00000180008	Chromatin interaction
ENSG00000198554	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	nsv84529	chr14:55512778-55517728	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55494400-55517600	Weak transcription	Lung	lung
2	chr14:55495000-55517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55495000-55517600	Weak transcription	Esophagus	oesophagus
4	chr14:55495200-55517600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:55495200-55517600	Weak transcription	Colonic Mucosa	Colon
6	chr14:55495200-55517800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:55495200-55517800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:55495400-55517600	Weak transcription	Right Ventricle	heart
9	chr14:55495600-55517600	Weak transcription	Brain Substantia Nigra	brain
10	chr14:55495600-55517600	Weak transcription	Fetal Kidney	kidney
11	chr14:55495600-55517600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:55496200-55517600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:55496200-55517600	Weak transcription	Fetal Heart	heart
14	chr14:55498400-55517600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:55501400-55517400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:55506400-55517000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:55507800-55517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:55508000-55516400	Weak transcription	Fetal Stomach	stomach
19	chr14:55508400-55517600	Weak transcription	Fetal Intestine Small	intestine
20	chr14:55510200-55517600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:55510200-55517800	Weak transcription	Aorta	Aorta
22	chr14:55510600-55517600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:55510600-55517600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:55510800-55516400	Weak transcription	K562	blood
25	chr14:55510800-55517400	Weak transcription	Fetal Lung	lung
26	chr14:55510800-55517600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:55510800-55517600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:55510800-55517600	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:55510800-55517600	Weak transcription	Left Ventricle	heart
30	chr14:55510800-55517600	Weak transcription	Stomach Mucosa	stomach
31	chr14:55510800-55517600	Weak transcription	Spleen	Spleen
32	chr14:55510800-55517600	Weak transcription	Hela-S3	cervix
33	chr14:55510800-55517800	Weak transcription	Thymus	Thymus
34	chr14:55511000-55516600	Weak transcription	NHEK	skin
35	chr14:55511000-55516800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:55511000-55517000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:55511000-55517200	Weak transcription	Brain Germinal Matrix	brain
38	chr14:55511000-55517200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:55511000-55517400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:55511000-55517600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:55511000-55517600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:55511000-55517600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:55511000-55517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:55511000-55517600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:55511000-55517600	Weak transcription	Primary T cells from cord blood	blood
46	chr14:55511000-55517600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:55511000-55517600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:55511000-55517600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:55511000-55517600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:55511000-55517600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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