Variant report

Variant	rs12432803
Chromosome Location	chr14:103930032-103930033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10144051	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10148970	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10149470	0.88[JPT][hapmap]
rs10151483	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10162425	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1107070	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11160751	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1116095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1138400	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11620897	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11627446	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11848796	0.81[EUR][1000 genomes]
rs12431617	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12435516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12436729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436759	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12436956	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12588272	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878548	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12882393	0.89[ASN][1000 genomes]
rs12894652	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101620	0.88[ASN][1000 genomes]
rs17841064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1803283	0.85[YRI][hapmap]
rs2023395	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2071407	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2071408	0.80[ASN][1000 genomes]
rs2273701	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273702	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2403174	0.99[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2756135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[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	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2765051	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34251103	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34411783	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34831235	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35233301	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35374941	0.90[ASN][1000 genomes]
rs35410438	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35512556	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759577	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs3783399	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4143998	0.94[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4243738	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4243739	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4900580	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906319	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4906320	0.94[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906322	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906324	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4906329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55658071	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55742283	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57344120	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60235428	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6575982	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6575985	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6575986	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6575988	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6575991	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7140647	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7144010	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144271	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7145753	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7146215	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7147664	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148567	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7148614	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7149767	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7156036	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156471	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159668	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8003740	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014800	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8015429	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8016676	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8018400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs911552	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs911554	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs911555	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs9671414	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs975892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12432803	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:103912400-103931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:103912600-103932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:103918600-103941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:103922400-103939200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:103922800-103940800	Weak transcription	Fetal Heart	heart
10	chr14:103923000-103935800	Weak transcription	Psoas Muscle	Psoas
11	chr14:103923000-103941600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:103923000-103949400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:103923200-103930200	Weak transcription	K562	blood
14	chr14:103923200-103930800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:103923200-103938200	Strong transcription	NHEK	skin
16	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:103923800-103938400	Strong transcription	Liver	Liver
19	chr14:103923800-103941400	Weak transcription	Small Intestine	intestine
20	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:103924400-103937200	Weak transcription	Stomach Mucosa	stomach
22	chr14:103925200-103930600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr14:103925200-103930800	Strong transcription	Primary B cells from cord blood	blood
24	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:103926000-103930800	Strong transcription	HSMM	muscle
26	chr14:103926200-103950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:103926600-103938400	Strong transcription	HMEC	breast
28	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
29	chr14:103927200-103930800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:103927200-103938400	Strong transcription	Dnd41	blood
31	chr14:103927200-103942400	Weak transcription	Fetal Brain Male	brain
32	chr14:103927400-103930600	Strong transcription	Fetal Muscle Leg	muscle
33	chr14:103927400-103930800	Strong transcription	GM12878-XiMat	blood
34	chr14:103927400-103930800	Strong transcription	Hela-S3	cervix
35	chr14:103927400-103944200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:103927400-103944800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:103927600-103930800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr14:103927600-103938400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:103927600-103938400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:103927600-103944000	Strong transcription	Fetal Thymus	thymus
41	chr14:103927600-103946600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:103927800-103930200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:103927800-103930400	Strong transcription	HSMMtube	muscle
44	chr14:103927800-103930600	Strong transcription	Aorta	Aorta
45	chr14:103927800-103930600	Strong transcription	Left Ventricle	heart
46	chr14:103927800-103937000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:103927800-103938000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:103927800-103938000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:103927800-103938000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr14:103927800-103938000	Strong transcription	Fetal Muscle Trunk	muscle

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