Variant report

Variant	rs28626081
Chromosome Location	chr14:103880750-103880751
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10133035	0.82[EUR][1000 genomes]
rs10134580	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1013650	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10139279	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10141120	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10141388	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10141433	0.88[EUR][1000 genomes]
rs10143247	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10145793	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10150072	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1028613	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621510	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622356	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11623869	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624367	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626483	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11626787	0.81[EUR][1000 genomes]
rs11628213	0.88[EUR][1000 genomes]
rs11628969	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12879085	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12888077	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12889639	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12890750	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12898029	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17617941	0.88[EUR][1000 genomes]
rs17679475	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1803283	0.80[EUR][1000 genomes]
rs1951392	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1961600	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1989565	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2010281	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273699	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2273700	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2273703	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2403180	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28361338	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28369539	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28444993	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28496120	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28583452	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34216351	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3742458	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783394	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783395	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783402	0.86[EUR][1000 genomes]
rs3825566	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4900572	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4906321	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55723020	0.81[EUR][1000 genomes]
rs55859054	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56365443	0.88[EUR][1000 genomes]
rs62006268	0.88[EUR][1000 genomes]
rs62007681	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62007683	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007684	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007686	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007687	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62007718	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62007719	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6575983	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6575984	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7140564	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7145113	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7146506	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7150317	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7152202	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154246	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7155014	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7156150	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7158144	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158822	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7160208	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7160366	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72708854	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72708874	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72708893	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72710714	0.84[EUR][1000 genomes]
rs8013101	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8015918	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8019578	0.85[EUR][1000 genomes]
rs9671911	0.86[EUR][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	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28626081	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs28626081	MARK3	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
3	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:103868400-103883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:103868400-103883800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:103868600-103883200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:103869600-103882800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:103870800-103883200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:103870800-103883200	Weak transcription	HSMMtube	muscle
10	chr14:103871000-103883000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:103871000-103883200	Weak transcription	Aorta	Aorta
12	chr14:103871000-103883600	Strong transcription	Dnd41	blood
13	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:103871400-103881200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:103871400-103881400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr14:103871400-103882800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:103871600-103883200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:103871600-103883400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:103872000-103883200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:103872200-103883800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr14:103873200-103881000	Strong transcription	Primary T cells from cord blood	blood
22	chr14:103874200-103881000	Strong transcription	Thymus	Thymus
23	chr14:103874600-103884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:103874800-103883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:103875200-103880800	Weak transcription	HUVEC	blood vessel
27	chr14:103875200-103888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:103875200-103889200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:103875200-103893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:103875400-103881400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:103875400-103882600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:103875400-103882600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:103875400-103882600	Weak transcription	Ovary	ovary
34	chr14:103875400-103882800	Weak transcription	Right Atrium	heart
35	chr14:103875400-103883000	Weak transcription	Brain Angular Gyrus	brain
36	chr14:103875400-103883200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:103875400-103883200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:103875400-103883600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:103875400-103884200	Weak transcription	Psoas Muscle	Psoas
40	chr14:103875400-103884600	Weak transcription	Small Intestine	intestine
41	chr14:103875400-103887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:103875400-103888600	Weak transcription	Gastric	stomach
43	chr14:103875400-103889600	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:103875400-103892200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:103875400-103893600	Weak transcription	Brain Germinal Matrix	brain
46	chr14:103875600-103881600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:103875600-103882800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:103875600-103883000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:103875600-103883400	Weak transcription	Stomach Mucosa	stomach
50	chr14:103875600-103884600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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