Variant report

Variant	rs2283378
Chromosome Location	chr14:72944385-72944386
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	chr14:72942498..72946263-chr14:72947951..72951671,4	MCF-7	breast:
2	chr14:72935777..72938192-chr14:72944033..72947024,3	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12432358	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2302143	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28428926	0.86[ASN][1000 genomes]

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	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
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72919400-72945200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:72923800-72946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72936000-72946200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:72940400-72946000	Weak transcription	Fetal Brain Female	brain
5	chr14:72942200-72947600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:72942400-72947000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:72942600-72945800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:72942800-72944400	Enhancers	Thymus	Thymus
9	chr14:72942800-72945200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:72942800-72947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:72943000-72944400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr14:72943000-72944400	Enhancers	Placenta	Placenta
13	chr14:72943000-72944800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:72943000-72945000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:72943000-72945000	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:72943000-72945600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:72943000-72947200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:72943000-72948400	Enhancers	Fetal Thymus	thymus
19	chr14:72943200-72945600	Enhancers	Primary B cells from peripheral blood	blood
20	chr14:72943200-72946800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:72943200-72947000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:72943400-72944400	Enhancers	Primary B cells from cord blood	blood
23	chr14:72943600-72945200	Weak transcription	K562	blood
24	chr14:72943600-72945400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:72943800-72944800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:72943800-72945000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr14:72943800-72945200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:72943800-72945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:72943800-72945400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr14:72943800-72946800	Enhancers	HSMMtube	muscle
31	chr14:72944000-72944400	Weak transcription	Fetal Kidney	kidney
32	chr14:72944000-72944400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:72944000-72944800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:72944000-72944800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:72944000-72944800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:72944000-72944800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:72944000-72945200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:72944000-72945400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:72944000-72945800	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:72944000-72946000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:72944000-72946200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:72944000-72947400	Weak transcription	Fetal Heart	heart
43	chr14:72944000-72948400	Enhancers	Primary T cells from cord blood	blood
44	chr14:72944000-72949200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:72944000-72957600	Weak transcription	Left Ventricle	heart
46	chr14:72944200-72944400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr14:72944200-72944600	Enhancers	GM12878-XiMat	blood
48	chr14:72944200-72944800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr14:72944200-72944800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr14:72944200-72945000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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