Variant report

Variant	rs72708874
Chromosome Location	chr14:103899251-103899252
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103869618..103871185-chr14:103898241..103901206,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10133035	0.81[EUR][1000 genomes]
rs10134580	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1013650	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139279	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141120	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141388	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141433	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10143247	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145793	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150072	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1028613	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11621510	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622356	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11623869	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11624367	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626483	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11628213	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11628969	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12879085	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12888077	0.90[EUR][1000 genomes]
rs12889639	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12890750	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12898029	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17617941	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17679475	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1951392	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1961600	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1989565	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2010281	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273699	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2273700	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2273703	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2403180	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28361338	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28369539	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28444993	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28496120	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583452	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28626081	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34216351	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742458	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783394	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3783395	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783402	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3825566	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4900572	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4906321	0.89[EUR][1000 genomes]
rs55859054	0.83[EUR][1000 genomes]
rs56365443	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62006268	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62006272	0.82[AFR][1000 genomes]
rs62007681	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007683	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62007684	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62007686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62007687	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007718	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007719	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6575983	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6575984	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7140564	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7145113	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146506	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150317	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152202	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154246	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7155014	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7156150	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7158144	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158822	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160208	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7160366	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72708854	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72708893	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72710714	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs8013101	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8015918	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8019578	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9671911	0.85[EUR][1000 genomes];0.81[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72708874	MARK3	cis	Thyroid	GTEx

Chromatin state (count:119 , 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	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
4	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
6	chr14:103881000-103900600	Weak transcription	Placenta	Placenta
7	chr14:103883400-103900000	Weak transcription	Fetal Thymus	thymus
8	chr14:103888200-103900400	Weak transcription	HepG2	liver
9	chr14:103889400-103917800	Weak transcription	Gastric	stomach
10	chr14:103890000-103900200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:103890000-103900400	Weak transcription	Aorta	Aorta
12	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:103890200-103900200	Weak transcription	NHLF	lung
14	chr14:103890200-103900400	Weak transcription	Thymus	Thymus
15	chr14:103890200-103900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:103890200-103900600	Weak transcription	HSMMtube	muscle
17	chr14:103890200-103905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:103890200-103914200	Weak transcription	Lung	lung
19	chr14:103891000-103904000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr14:103891200-103900000	Weak transcription	Primary B cells from cord blood	blood
21	chr14:103891200-103900400	Weak transcription	Fetal Intestine Large	intestine
22	chr14:103893000-103904600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:103893200-103905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:103894200-103900400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:103894400-103900000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:103894400-103900400	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:103894400-103900600	Weak transcription	Right Atrium	heart
28	chr14:103894400-103911400	Weak transcription	Pancreas	Pancrea
29	chr14:103894400-103911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:103894600-103900200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:103894600-103900200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:103894600-103900400	Weak transcription	Psoas Muscle	Psoas
33	chr14:103894600-103901400	Weak transcription	A549	lung
34	chr14:103894600-103904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:103894600-103908200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:103894600-103911400	Weak transcription	Brain Angular Gyrus	brain
37	chr14:103894600-103911600	Weak transcription	Fetal Brain Female	brain
38	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
40	chr14:103895000-103900200	Weak transcription	Liver	Liver
41	chr14:103895400-103905400	Weak transcription	Fetal Lung	lung
42	chr14:103895600-103900200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:103895600-103905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:103895600-103905000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:103895600-103911400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:103895800-103900000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:103895800-103900000	Weak transcription	GM12878-XiMat	blood
48	chr14:103895800-103900200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:103895800-103900200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:103895800-103900200	Weak transcription	HSMM	muscle

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