Variant report

Variant	rs3783395
Chromosome Location	chr14:103895020-103895021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr14:103894489-103895704	K562	blood:	n/a	chr14:103895250-103895264 chr14:103895254-103895268 chr14:103895252-103895265 chr14:103895256-103895270 chr14:103895254-103895264 chr14:103895253-103895265 chr14:103895253-103895265 chr14:103895254-103895265 chr14:103895255-103895266 chr14:103895246-103895266 chr14:103895251-103895265
2	IRF1	chr14:103894514-103895451	K562	blood:	n/a	chr14:103895250-103895264 chr14:103895254-103895268 chr14:103895252-103895265 chr14:103895256-103895270 chr14:103895254-103895264 chr14:103895253-103895265 chr14:103895253-103895265 chr14:103895254-103895265 chr14:103895255-103895266 chr14:103895246-103895266 chr14:103895251-103895265

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103893677..103895539-chr14:103987804..103990047,2	K562	blood:

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000166165	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10133035	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10134580	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1013650	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10139279	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10141120	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10141388	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10141433	0.88[EUR][1000 genomes]
rs10143247	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10145793	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10150072	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1028613	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11621510	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11622356	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11623869	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11624367	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11626483	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11626787	0.80[EUR][1000 genomes]
rs11628213	0.88[EUR][1000 genomes]
rs11628969	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12879085	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12888077	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12889639	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12890750	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12898029	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17617941	0.88[EUR][1000 genomes]
rs17679475	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1951392	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1961600	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1989565	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2010281	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2273699	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2273700	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2273703	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2403180	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28361338	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28369539	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28444993	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28496120	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28583452	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28626081	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34216351	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3742458	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783394	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783402	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3825566	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4900572	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4906321	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55723020	0.80[EUR][1000 genomes]
rs55859054	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56365443	0.88[EUR][1000 genomes]
rs62006268	0.88[EUR][1000 genomes]
rs62007681	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62007683	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62007684	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62007686	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62007687	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62007718	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62007719	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6575983	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6575984	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7140564	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7145113	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7146506	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7150317	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7152202	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7154246	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7155014	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7156150	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7158144	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158822	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7160208	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7160366	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72708854	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72708874	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72708893	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72710714	0.83[EUR][1000 genomes]
rs8013101	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8015918	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8019578	0.84[EUR][1000 genomes]
rs9671911	0.85[EUR][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3783395	MARK3	cis	Thyroid	GTEx
rs3783395	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs3783395	BAG5	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 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	chr14:103879000-103895200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
5	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
7	chr14:103881000-103900600	Weak transcription	Placenta	Placenta
8	chr14:103883400-103900000	Weak transcription	Fetal Thymus	thymus
9	chr14:103883800-103896800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:103884000-103895400	Weak transcription	Stomach Mucosa	stomach
11	chr14:103884200-103897200	Weak transcription	Fetal Intestine Small	intestine
12	chr14:103888200-103895600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:103888200-103900400	Weak transcription	HepG2	liver
14	chr14:103889400-103917800	Weak transcription	Gastric	stomach
15	chr14:103889800-103895600	Weak transcription	Right Ventricle	heart
16	chr14:103890000-103896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:103890000-103900200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:103890000-103900400	Weak transcription	Aorta	Aorta
19	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:103890200-103895200	Weak transcription	Dnd41	blood
21	chr14:103890200-103900200	Weak transcription	NHLF	lung
22	chr14:103890200-103900400	Weak transcription	Thymus	Thymus
23	chr14:103890200-103900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:103890200-103900600	Weak transcription	HSMMtube	muscle
25	chr14:103890200-103905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:103890200-103914200	Weak transcription	Lung	lung
27	chr14:103890800-103897800	Weak transcription	Fetal Stomach	stomach
28	chr14:103891000-103904000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr14:103891200-103900000	Weak transcription	Primary B cells from cord blood	blood
30	chr14:103891200-103900400	Weak transcription	Fetal Intestine Large	intestine
31	chr14:103891800-103895400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:103892000-103895200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:103892000-103895800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:103892000-103896200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr14:103892000-103896200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:103892200-103895200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:103892200-103895400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:103892200-103895800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:103892200-103896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:103892800-103895400	Enhancers	NH-A	brain
41	chr14:103892800-103895600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:103892800-103896000	Enhancers	K562	blood
43	chr14:103893000-103895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:103893000-103895800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr14:103893000-103904600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:103893200-103905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:103893400-103895800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:103893400-103896000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:103893400-103896000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:103893600-103895200	Enhancers	HUVEC	blood vessel

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