Variant report

Variant	rs72708893
Chromosome Location	chr14:103929535-103929536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103923899..103929898-chr14:103931403..103935760,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10133035	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10134580	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1013650	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139279	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141120	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141388	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141433	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143247	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145793	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10150072	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1022736	0.82[ASN][1000 genomes]
rs1028613	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11621510	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11622356	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11623869	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624367	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11626483	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626787	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628213	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11628969	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879085	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12888077	0.86[EUR][1000 genomes]
rs12889639	0.88[EUR][1000 genomes]
rs12890750	0.85[EUR][1000 genomes]
rs12898029	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1467561	0.82[ASN][1000 genomes]
rs17617941	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17679475	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1803283	0.84[EUR][1000 genomes]
rs1951392	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1961600	0.85[AFR][1000 genomes];0.90[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	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273699	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273700	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273703	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403180	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28361338	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28369539	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444993	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496120	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28583452	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28626081	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34216351	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742458	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759584	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3783394	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783395	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783402	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3825566	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4900572	0.88[EUR][1000 genomes]
rs4906321	0.86[EUR][1000 genomes]
rs55723020	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55859054	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56365443	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62006268	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62006272	0.89[AFR][1000 genomes]
rs62007681	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62007683	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007684	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007686	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007687	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007718	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62007719	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575983	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6575984	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7140564	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145113	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146506	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150317	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152202	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7154246	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7155014	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7156150	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7158144	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7158822	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7160208	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7160366	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708854	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72708874	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72710714	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8013101	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015918	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019578	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9671911	0.87[EUR][1000 genomes];0.90[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
rs72708893	MARK3	cis	Thyroid	GTEx

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	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:103912400-103931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:103912600-103929600	Weak transcription	Brain Substantia Nigra	brain
7	chr14:103912600-103932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:103914800-103929600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:103918600-103941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:103922400-103939200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:103922800-103940800	Weak transcription	Fetal Heart	heart
13	chr14:103923000-103935800	Weak transcription	Psoas Muscle	Psoas
14	chr14:103923000-103941600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:103923000-103949400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:103923200-103930200	Weak transcription	K562	blood
17	chr14:103923200-103930800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:103923200-103938200	Strong transcription	NHEK	skin
19	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:103923800-103938400	Strong transcription	Liver	Liver
22	chr14:103923800-103941400	Weak transcription	Small Intestine	intestine
23	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:103924400-103937200	Weak transcription	Stomach Mucosa	stomach
25	chr14:103925200-103930600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr14:103925200-103930800	Strong transcription	Primary B cells from cord blood	blood
27	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr14:103926000-103930800	Strong transcription	HSMM	muscle
29	chr14:103926200-103950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:103926600-103938400	Strong transcription	HMEC	breast
31	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
32	chr14:103927200-103930800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:103927200-103938400	Strong transcription	Dnd41	blood
34	chr14:103927200-103942400	Weak transcription	Fetal Brain Male	brain
35	chr14:103927400-103930600	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:103927400-103930800	Strong transcription	GM12878-XiMat	blood
37	chr14:103927400-103930800	Strong transcription	Hela-S3	cervix
38	chr14:103927400-103944200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:103927400-103944800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:103927600-103930000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:103927600-103930800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:103927600-103938400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:103927600-103938400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:103927600-103944000	Strong transcription	Fetal Thymus	thymus
45	chr14:103927600-103946600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:103927800-103930200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:103927800-103930400	Strong transcription	HSMMtube	muscle
48	chr14:103927800-103930600	Strong transcription	Aorta	Aorta
49	chr14:103927800-103930600	Strong transcription	Left Ventricle	heart
50	chr14:103927800-103937000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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