Variant report

Variant	rs12147154
Chromosome Location	chr14:72100472-72100473
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72098961..72100634-chr14:72106164..72107861,2	MCF-7	breast:
2	chr14:72097989..72100709-chr14:72101548..72105731,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11624555	1.00[CEU][hapmap]
rs11629264	0.84[EUR][1000 genomes]
rs11850220	0.94[YRI][hapmap]
rs1473130	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17092070	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs60065332	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72729956	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72729973	0.83[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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72072600-72103600	Weak transcription	Left Ventricle	heart
2	chr14:72073200-72137800	Weak transcription	Esophagus	oesophagus
3	chr14:72073400-72111000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:72075200-72106800	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:72082600-72125000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:72083000-72111000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:72083400-72101600	Weak transcription	Fetal Stomach	stomach
8	chr14:72083600-72118000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:72083600-72128200	Weak transcription	Spleen	Spleen
10	chr14:72083800-72105200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:72083800-72109800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:72084000-72111800	Weak transcription	Thymus	Thymus
13	chr14:72084600-72101400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:72087400-72113400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:72088200-72108800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:72088400-72100800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:72088400-72103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:72088600-72105200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:72090000-72124200	Weak transcription	Hela-S3	cervix
21	chr14:72091000-72107200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:72091000-72114000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:72091000-72117000	Weak transcription	Liver	Liver
24	chr14:72091000-72127400	Weak transcription	Pancreas	Pancrea
25	chr14:72091200-72105400	Weak transcription	Primary T cells from cord blood	blood
26	chr14:72091200-72109000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:72091200-72109600	Weak transcription	Brain Anterior Caudate	brain
28	chr14:72091200-72115200	Weak transcription	HepG2	liver
29	chr14:72091600-72102600	Weak transcription	HSMM	muscle
30	chr14:72091600-72103000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:72091600-72108800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:72091600-72109600	Weak transcription	HSMMtube	muscle
33	chr14:72091600-72116800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:72091600-72117000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:72091600-72117200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:72092200-72101600	Weak transcription	Adipose Nuclei	Adipose
37	chr14:72092400-72105200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:72093200-72104800	Weak transcription	NHEK	skin
39	chr14:72093400-72109000	Weak transcription	Fetal Lung	lung
40	chr14:72095600-72103200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:72096400-72104600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:72097200-72100800	Weak transcription	NH-A	brain
43	chr14:72097200-72102400	Weak transcription	HUVEC	blood vessel
44	chr14:72097200-72102600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:72097200-72104600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:72097200-72109400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:72098000-72104800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:72098600-72100600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr14:72098600-72102000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:72098800-72101000	ZNF genes & repeats	GM12878-XiMat	blood

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