Variant report

Variant	rs7145113
Chromosome Location	chr14:103945414-103945415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10133035	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10134580	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135868	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1013650	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139279	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141120	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141388	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141433	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143247	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145793	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10150072	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1022736	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1028613	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11621037	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11621510	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11622356	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11623470	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11623869	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624367	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11626483	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626787	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11627529	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11628213	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11628969	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879085	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12888077	0.87[EUR][1000 genomes]
rs12889639	0.89[EUR][1000 genomes]
rs12890750	0.86[EUR][1000 genomes]
rs12898029	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1467561	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17617941	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17679475	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1803283	0.88[EUR][1000 genomes]
rs1951392	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1961600	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1989565	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2010281	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273699	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273700	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273703	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296484	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2296486	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2403180	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28361338	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28369539	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444993	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496120	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28583452	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28626081	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34216351	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742458	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759584	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3783394	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783395	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783402	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3825566	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs45441198	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4900572	0.89[EUR][1000 genomes]
rs4906321	0.82[EUR][1000 genomes]
rs55723020	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55859054	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56365443	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62006268	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62006272	0.84[AMR][1000 genomes]
rs62007681	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62007683	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007684	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007686	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007687	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007718	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62007719	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575983	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6575984	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7140564	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146506	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150317	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152202	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7154246	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7155014	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7156150	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7158144	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7158822	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7160208	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7160366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708854	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72708874	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72708893	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72710714	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8013101	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015918	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019578	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9671911	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv525874	chr14:103937372-103950368	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1829466	chr14:103937582-103954794	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7145113	MARK3	cis	Thyroid	GTEx
rs7145113	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs7145113	BAG5	cis	multi-tissue	Pritchard
rs7145113	CKB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103923000-103949400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:103926200-103950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
9	chr14:103927600-103946600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:103927800-103946000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:103927800-103946400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:103927800-103946600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr14:103927800-103949200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:103927800-103951000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:103927800-103951600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:103928000-103946600	Strong transcription	Primary T cells from cord blood	blood
18	chr14:103928000-103946800	Strong transcription	Fetal Intestine Small	intestine
19	chr14:103928000-103947600	Strong transcription	Fetal Stomach	stomach
20	chr14:103928400-103947600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:103928600-103950800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:103929800-103946400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr14:103930000-103946400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr14:103930600-103951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:103931600-103946400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:103931600-103949400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:103931600-103955000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:103932000-103953800	Strong transcription	Fetal Muscle Leg	muscle
29	chr14:103938000-103949600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:103938000-103950200	Weak transcription	Stomach Mucosa	stomach
31	chr14:103939000-103947600	Strong transcription	Left Ventricle	heart
32	chr14:103939200-103949600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr14:103939200-103950800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:103939200-103951000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:103939200-103951000	Strong transcription	Liver	Liver
36	chr14:103939200-103951000	Strong transcription	Placenta	Placenta
37	chr14:103939200-103966200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:103939400-103946200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:103939400-103950400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr14:103939400-103950800	Strong transcription	Dnd41	blood
41	chr14:103939400-103952200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr14:103939400-103956000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:103939600-103949800	Strong transcription	Osteobl	bone
44	chr14:103940200-103954800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:103940400-103945600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:103940400-103948000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:103940400-103950400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:103940400-103950800	Strong transcription	Adipose Nuclei	Adipose
49	chr14:103940400-103951000	Strong transcription	Brain Hippocampus Middle	brain
50	chr14:103940600-103947800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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