Variant report

Variant	rs2074953
Chromosome Location	chr14:72943176-72943177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72942498..72946263-chr14:72947951..72951671,4	MCF-7	breast:
2	chr14:72937315..72940089-chr14:72941556..72943605,3	MCF-7	breast:
3	chr14:72942083..72944144-chr14:72945071..72947674,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1548687	0.88[JPT][hapmap]
rs2238180	0.91[CEU][hapmap];0.87[TSI][hapmap]
rs2239272	0.91[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs2239277	0.83[CEU][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs2283376	0.88[EUR][1000 genomes]
rs35573236	0.84[EUR][1000 genomes]
rs758266	0.80[EUR][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:47 , 50 per page) page: 1

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	chr14:72930200-72943400	Weak transcription	Left Ventricle	heart
4	chr14:72934400-72943400	Weak transcription	Spleen	Spleen
5	chr14:72936000-72946200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:72938600-72943400	Weak transcription	Lung	lung
7	chr14:72940400-72946000	Weak transcription	Fetal Brain Female	brain
8	chr14:72942200-72943800	Weak transcription	Fetal Kidney	kidney
9	chr14:72942200-72947600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:72942400-72943400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:72942400-72947000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:72942600-72943200	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:72942600-72943600	Flanking Active TSS	GM12878-XiMat	blood
14	chr14:72942600-72945800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:72942800-72943200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:72942800-72943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:72942800-72943400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:72942800-72943400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:72942800-72944000	Enhancers	HMEC	breast
20	chr14:72942800-72944200	Flanking Active TSS	Dnd41	blood
21	chr14:72942800-72944400	Enhancers	Thymus	Thymus
22	chr14:72942800-72945200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:72942800-72947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:72943000-72943200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:72943000-72943200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr14:72943000-72943400	Enhancers	Primary T cells from cord blood	blood
27	chr14:72943000-72943400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr14:72943000-72943400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:72943000-72943400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr14:72943000-72943400	Enhancers	HSMMtube	muscle
31	chr14:72943000-72943600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr14:72943000-72943600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:72943000-72943800	Enhancers	NHEK	skin
34	chr14:72943000-72944000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr14:72943000-72944000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:72943000-72944000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:72943000-72944000	Enhancers	Fetal Muscle Leg	muscle
38	chr14:72943000-72944200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:72943000-72944200	Enhancers	HSMM	muscle
40	chr14:72943000-72944400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr14:72943000-72944400	Enhancers	Placenta	Placenta
42	chr14:72943000-72944800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr14:72943000-72945000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:72943000-72945000	Enhancers	Primary hematopoietic stem cells	blood
45	chr14:72943000-72945600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:72943000-72947200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:72943000-72948400	Enhancers	Fetal Thymus	thymus

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