Variant report

Variant	rs7150317
Chromosome Location	chr14:103921691-103921692
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103914502..103918340-chr14:103920632..103922963,4	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10133035	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10134580	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1013650	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139279	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141388	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141433	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145793	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10150072	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1022736	0.82[ASN][1000 genomes]
rs1028613	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11621510	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11622356	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11623869	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624367	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11626483	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626787	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628213	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11628969	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879085	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12888077	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12889639	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12890750	0.85[EUR][1000 genomes]
rs12898029	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1467561	0.82[ASN][1000 genomes]
rs17617941	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17679475	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1803283	0.84[EUR][1000 genomes]
rs1951392	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1961600	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1989565	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2010281	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273699	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273700	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403180	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28361338	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28369539	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444993	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496120	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28583452	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28626081	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34216351	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742458	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759584	0.82[ASN][1000 genomes]
rs3783394	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783395	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783402	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3825566	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4900572	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4906321	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55723020	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55859054	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56365443	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62006268	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007681	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62007683	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007684	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007686	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007687	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007718	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62007719	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575983	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6575984	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7140564	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145113	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152202	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7154246	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7155014	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7156150	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7158144	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7158822	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7160208	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7160366	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708854	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72708874	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72708893	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72710714	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8013101	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015918	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019578	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9671911	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7150317	MARK3	cis	Thyroid	GTEx
rs7150317	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs7150317	BAG5	cis	multi-tissue	Pritchard

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	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
5	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:103901600-103928600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:103910200-103923400	Weak transcription	GM12878-XiMat	blood
10	chr14:103910800-103922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:103912200-103921800	Weak transcription	HSMMtube	muscle
12	chr14:103912200-103927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:103912200-103928400	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:103912400-103924000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:103912400-103928600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:103912400-103931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:103912600-103928400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:103912600-103929600	Weak transcription	Brain Substantia Nigra	brain
21	chr14:103912600-103932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:103913000-103926600	Weak transcription	Fetal Brain Male	brain
23	chr14:103913000-103929000	Weak transcription	Brain Germinal Matrix	brain
24	chr14:103913200-103929000	Weak transcription	Brain Angular Gyrus	brain
25	chr14:103913200-103929000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:103913600-103926800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:103913800-103922400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:103914200-103928600	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:103914600-103922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:103914600-103922400	Weak transcription	Esophagus	oesophagus
31	chr14:103914600-103922600	Weak transcription	Psoas Muscle	Psoas
32	chr14:103914800-103922400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:103914800-103922400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:103914800-103922400	Weak transcription	Brain Anterior Caudate	brain
35	chr14:103914800-103922400	Weak transcription	Fetal Kidney	kidney
36	chr14:103914800-103922400	Weak transcription	Spleen	Spleen
37	chr14:103914800-103922400	Weak transcription	K562	blood
38	chr14:103914800-103927800	Weak transcription	Aorta	Aorta
39	chr14:103914800-103928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:103914800-103929200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:103914800-103929600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:103915800-103922200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:103916000-103922400	Strong transcription	HMEC	breast
44	chr14:103916400-103923600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:103916800-103929000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:103917000-103922400	Weak transcription	A549	lung
47	chr14:103917000-103922800	Weak transcription	Liver	Liver
48	chr14:103917200-103922200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:103917200-103922400	Weak transcription	Adipose Nuclei	Adipose
50	chr14:103917400-103922400	Weak transcription	Small Intestine	intestine

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