Variant report

Variant	rs28361338
Chromosome Location	chr14:103918894-103918895
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	chr14:103909074..103912796-chr14:103914984..103919219,5	MCF-7	breast:
2	chr14:103913931..103915971-chr14:103917961..103920745,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10133035	0.81[ASN][1000 genomes]
rs10134580	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1013650	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10139279	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10141120	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10141388	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10141433	0.85[ASN][1000 genomes]
rs10143247	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10145793	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10150072	0.85[ASN][1000 genomes]
rs1028613	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11621510	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11622356	0.85[ASN][1000 genomes]
rs11623869	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11624367	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11626483	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11628213	0.85[ASN][1000 genomes]
rs11628969	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12879085	0.81[EUR][1000 genomes]
rs17617941	0.83[ASN][1000 genomes]
rs17679475	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1961600	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2010281	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2273699	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2273700	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273703	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403180	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28369539	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28444993	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28496120	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28583452	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28626081	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34216351	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742458	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783394	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3783395	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3783402	0.85[ASN][1000 genomes]
rs55859054	0.83[ASN][1000 genomes]
rs56365443	0.85[ASN][1000 genomes]
rs62006268	0.85[ASN][1000 genomes]
rs62007681	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62007683	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62007684	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62007686	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62007687	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62007718	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62007719	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6575983	0.81[EUR][1000 genomes]
rs6575984	0.81[EUR][1000 genomes]
rs7145113	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7146506	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7150317	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7152202	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7154246	0.81[EUR][1000 genomes]
rs7156150	0.85[ASN][1000 genomes]
rs7158144	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7158822	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7160208	0.85[ASN][1000 genomes]
rs7160366	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72708854	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72708874	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72708893	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72710714	0.81[ASN][1000 genomes]
rs8013101	0.85[ASN][1000 genomes]
rs8015918	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8019578	0.85[ASN][1000 genomes]
rs9671911	0.85[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28361338	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs28361338	MARK3	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
6	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:103901600-103920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:103901600-103928600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:103904200-103920000	Weak transcription	HUVEC	blood vessel
12	chr14:103905400-103920000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:103906600-103920800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:103908000-103919000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:103908400-103919800	Weak transcription	NHEK	skin
16	chr14:103908600-103920000	Weak transcription	Fetal Intestine Small	intestine
17	chr14:103910200-103923400	Weak transcription	GM12878-XiMat	blood
18	chr14:103910800-103922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:103912000-103921600	Weak transcription	NHLF	lung
20	chr14:103912200-103921800	Weak transcription	HSMMtube	muscle
21	chr14:103912200-103927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:103912200-103928400	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:103912400-103924000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:103912400-103928600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:103912400-103931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:103912600-103928400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:103912600-103929600	Weak transcription	Brain Substantia Nigra	brain
30	chr14:103912600-103932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:103913000-103926600	Weak transcription	Fetal Brain Male	brain
32	chr14:103913000-103929000	Weak transcription	Brain Germinal Matrix	brain
33	chr14:103913200-103929000	Weak transcription	Brain Angular Gyrus	brain
34	chr14:103913200-103929000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:103913400-103919400	Weak transcription	HepG2	liver
36	chr14:103913600-103919400	Weak transcription	Fetal Brain Female	brain
37	chr14:103913600-103926800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:103913800-103920000	Weak transcription	Ovary	ovary
39	chr14:103913800-103922400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:103914200-103928600	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:103914600-103920200	Weak transcription	Right Ventricle	heart
42	chr14:103914600-103922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:103914600-103922400	Weak transcription	Esophagus	oesophagus
44	chr14:103914600-103922600	Weak transcription	Psoas Muscle	Psoas
45	chr14:103914800-103919600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:103914800-103920000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:103914800-103920000	Weak transcription	Lung	lung
48	chr14:103914800-103922400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:103914800-103922400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:103914800-103922400	Weak transcription	Brain Anterior Caudate	brain

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