Variant report

Variant	rs10140534
Chromosome Location	chr14:45462806-45462807
allele	A/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	IRF3	chr14:45462774-45462812	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:45447939..45449811-chr14:45461591..45463970,2	MCF-7	breast:
2	chr14:45461379..45464439-chr14:45465878..45468676,3	MCF-7	breast:
3	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:
4	chr14:45437222..45438857-chr14:45461418..45463222,2	MCF-7	breast:

Variant related genes	Relation type
FAM179B	TF binding region
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10129456	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs10130162	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130287	1.00[AMR][1000 genomes]
rs10131349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131585	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10131595	0.82[YRI][hapmap]
rs10131972	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132311	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132401	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132454	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132492	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs10132637	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132697	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134083	0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135653	0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138405	0.94[AFR][1000 genomes]
rs10139121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139464	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140308	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140661	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142928	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143572	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs10144179	0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10144729	0.90[YRI][hapmap]
rs10145279	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145792	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145979	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146384	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146732	0.84[AFR][1000 genomes]
rs10146930	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147547	0.82[YRI][hapmap]
rs10147794	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147950	1.00[AMR][1000 genomes]
rs10148765	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149416	0.94[AFR][1000 genomes]
rs10149748	0.86[YRI][hapmap]
rs10150272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151061	1.00[AMR][1000 genomes]
rs10450913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11157429	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100992	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101074	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs17092470	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092482	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115714	0.82[YRI][hapmap]
rs17115721	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115735	0.90[YRI][hapmap]
rs17115737	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115745	0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28403384	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28406098	0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs28408667	0.84[YRI][hapmap]
rs28469277	0.95[YRI][hapmap];0.94[AFR][1000 genomes]
rs28513185	0.81[AFR][1000 genomes]
rs28513220	1.00[AMR][1000 genomes]
rs28520409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28536084	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544334	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682279	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28685885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688045	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690299	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28802144	0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28831119	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4497593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7143763	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8003388	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8008121	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010366	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879340	1.00[AMR][1000 genomes]
rs961194	0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1801436	chr14:45441932-45476174	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1260	chr14:45457666-45502671	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45434600-45465000	Weak transcription	Fetal Thymus	thymus
2	chr14:45436200-45486600	Weak transcription	Gastric	stomach
3	chr14:45437000-45465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:45437200-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
12	chr14:45438200-45465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:45439200-45464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:45440000-45465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:45440400-45465800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:45441400-45469400	Weak transcription	Primary T cells from cord blood	blood
17	chr14:45449200-45466000	Weak transcription	Fetal Intestine Large	intestine
18	chr14:45449400-45482000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:45449800-45465800	Weak transcription	Fetal Stomach	stomach
20	chr14:45450000-45501800	Weak transcription	Lung	lung
21	chr14:45451400-45466000	Weak transcription	Aorta	Aorta
22	chr14:45452000-45482200	Weak transcription	NHDF-Ad	bronchial
23	chr14:45452400-45464600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:45452400-45465200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:45452400-45465200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:45452600-45482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:45452800-45465200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:45452800-45477800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:45453200-45466000	Weak transcription	Thymus	Thymus
30	chr14:45456200-45463200	Weak transcription	Fetal Intestine Small	intestine
31	chr14:45456200-45465200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:45456600-45463600	Weak transcription	Dnd41	blood
33	chr14:45458000-45465200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:45458000-45465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:45458000-45473200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:45458200-45465800	Weak transcription	Ovary	ovary
37	chr14:45458200-45469400	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:45458200-45469600	Weak transcription	Right Ventricle	heart
39	chr14:45458200-45469600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:45458200-45470000	Weak transcription	Left Ventricle	heart
41	chr14:45458200-45475200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:45458200-45478000	Weak transcription	Small Intestine	intestine
43	chr14:45458200-45487400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:45458200-45487400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:45458200-45501400	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:45458200-45507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:45458400-45465200	Weak transcription	Fetal Lung	lung
48	chr14:45458400-45468200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:45458400-45481600	Weak transcription	Adipose Nuclei	Adipose
50	chr14:45458600-45465200	Weak transcription	Monocytes-CD14+_RO01746	blood

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