Variant report

Variant	rs573020475
Chromosome Location	chr14:72152477-72152478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72152429..72155391-chr14:72157958..72160807,2	K562	blood:

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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:72126200-72159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:72128000-72167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:72129400-72153600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
7	chr14:72131800-72154000	Weak transcription	Fetal Heart	heart
8	chr14:72134000-72153200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:72134200-72159000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:72139400-72153600	Weak transcription	Fetal Kidney	kidney
11	chr14:72139600-72153800	Weak transcription	Fetal Lung	lung
12	chr14:72139800-72155200	Weak transcription	Placenta	Placenta
13	chr14:72140000-72156800	Weak transcription	Fetal Thymus	thymus
14	chr14:72140000-72165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:72140600-72176000	Weak transcription	Hela-S3	cervix
16	chr14:72142000-72153400	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:72142400-72153600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:72142400-72153600	Weak transcription	HSMM	muscle
20	chr14:72142600-72152800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:72142600-72159000	Weak transcription	Brain Germinal Matrix	brain
22	chr14:72142600-72159000	Weak transcription	NH-A	brain
23	chr14:72142600-72159200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:72142600-72159600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:72142600-72159800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:72147800-72185000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:72148000-72161600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:72148200-72156800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:72148200-72170000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:72148200-72175800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:72148600-72165000	Weak transcription	Fetal Brain Male	brain
33	chr14:72149000-72177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:72149000-72186200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:72149400-72153600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:72149400-72161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:72149600-72152600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:72149800-72153600	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:72149800-72153800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:72149800-72176000	Weak transcription	Small Intestine	intestine
41	chr14:72150200-72152800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:72150200-72153600	Strong transcription	Primary B cells from cord blood	blood
43	chr14:72150400-72152800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:72150400-72162600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr14:72150600-72152600	Strong transcription	Primary T cells from cord blood	blood
46	chr14:72150600-72152600	Strong transcription	Liver	Liver
47	chr14:72150600-72152600	Strong transcription	Fetal Stomach	stomach
48	chr14:72150600-72152600	Strong transcription	Spleen	Spleen
49	chr14:72150600-72152800	Strong transcription	Brain Substantia Nigra	brain
50	chr14:72150600-72152800	Strong transcription	GM12878-XiMat	blood

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