Variant report

Variant	rs12588272
Chromosome Location	chr14:103926655-103926656
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	chr14:103923899..103929898-chr14:103931403..103935760,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10144051	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10148970	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10151483	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10162425	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1107070	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11160751	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1116095	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1138400	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11620897	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11627446	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11848796	0.81[EUR][1000 genomes]
rs12431617	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12432803	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435516	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12436729	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436759	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12436956	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12878548	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12882393	0.89[ASN][1000 genomes]
rs12894652	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101620	0.88[ASN][1000 genomes]
rs17841064	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2023395	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2071407	0.80[ASN][1000 genomes]
rs2071408	0.80[ASN][1000 genomes]
rs2273701	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273702	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2403174	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2403192	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2756118	0.86[ASN][1000 genomes]
rs2756122	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2756128	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2756132	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2756135	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2765042	0.86[ASN][1000 genomes]
rs2765046	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2765049	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2765051	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34251103	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34411783	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34831235	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35233301	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35374941	0.90[ASN][1000 genomes]
rs35410438	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35512556	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783399	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4143998	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4243738	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4243739	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4900580	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906320	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906322	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4906329	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55658071	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55742283	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57344120	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60235428	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6575982	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6575985	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6575986	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6575988	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6575991	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7140647	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7144010	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144271	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7145753	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7146215	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7147640	0.80[AMR][1000 genomes]
rs7147664	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148567	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7148614	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7149767	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7156036	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156471	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159668	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8003740	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010247	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014013	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014800	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8015429	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8016676	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8018400	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9671414	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs975892	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12588272	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
3	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:103901600-103928600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:103912200-103927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:103912200-103928400	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:103912400-103928600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:103912400-103931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:103912600-103928400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:103912600-103929600	Weak transcription	Brain Substantia Nigra	brain
13	chr14:103912600-103932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:103913000-103929000	Weak transcription	Brain Germinal Matrix	brain
15	chr14:103913200-103929000	Weak transcription	Brain Angular Gyrus	brain
16	chr14:103913200-103929000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:103913600-103926800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:103914200-103928600	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:103914800-103927800	Weak transcription	Aorta	Aorta
20	chr14:103914800-103928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:103914800-103929200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:103914800-103929600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:103916800-103929000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:103918200-103928800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr14:103918200-103929200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:103918600-103927800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:103918600-103941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:103918800-103928600	Weak transcription	Fetal Lung	lung
29	chr14:103919600-103928800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:103919800-103928600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:103920000-103929000	Weak transcription	Colonic Mucosa	Colon
32	chr14:103920200-103928400	Weak transcription	NHDF-Ad	bronchial
33	chr14:103920400-103928400	Weak transcription	Fetal Brain Female	brain
34	chr14:103920400-103928400	Weak transcription	Placenta	Placenta
35	chr14:103920600-103927600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:103920600-103927800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr14:103920600-103928400	Weak transcription	Ovary	ovary
38	chr14:103920600-103928600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:103920600-103929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:103922400-103939200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:103922800-103928000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:103922800-103928400	Weak transcription	Lung	lung
44	chr14:103922800-103940800	Weak transcription	Fetal Heart	heart
45	chr14:103923000-103927800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:103923000-103928000	Weak transcription	Pancreas	Pancrea
47	chr14:103923000-103928000	Weak transcription	Spleen	Spleen
48	chr14:103923000-103928400	Weak transcription	Fetal Kidney	kidney
49	chr14:103923000-103928400	Weak transcription	Right Ventricle	heart
50	chr14:103923000-103928600	Weak transcription	Brain Anterior Caudate	brain

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