Variant report

Variant	rs74060234
Chromosome Location	chr14:70092451-70092452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70091590..70094209-chr14:70097904..70100674,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11845658	1.00[EUR][1000 genomes]
rs11849924	1.00[EUR][1000 genomes]
rs12100899	1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs1957367	1.00[EUR][1000 genomes]
rs55870632	1.00[AMR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs55988102	1.00[AMR][1000 genomes]
rs56002959	1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56808476	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859443	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56956469	1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58053579	1.00[EUR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58503693	1.00[EUR][1000 genomes]
rs58583730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs60085780	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs61734222	1.00[EUR][1000 genomes]
rs61745930	1.00[EUR][1000 genomes]
rs7144597	1.00[EUR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060220	1.00[EUR][1000 genomes]
rs74060237	1.00[AMR][1000 genomes]
rs74060251	1.00[EUR][1000 genomes]
rs74060252	1.00[EUR][1000 genomes]
rs74060256	1.00[EUR][1000 genomes]
rs74060258	1.00[EUR][1000 genomes]
rs74060261	1.00[EUR][1000 genomes]
rs74060263	1.00[EUR][1000 genomes]
rs74060267	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060281	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060283	1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74061831	1.00[AMR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014375	1.00[AMR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
3	chr14:70082600-70092600	Weak transcription	Esophagus	oesophagus
4	chr14:70083400-70093400	Enhancers	Brain Hippocampus Middle	brain
5	chr14:70083400-70095200	Weak transcription	Fetal Intestine Large	intestine
6	chr14:70083400-70097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:70087200-70100000	Weak transcription	NHEK	skin
8	chr14:70088000-70098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:70088600-70095800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:70088600-70099200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:70089400-70092800	Enhancers	HMEC	breast
12	chr14:70089600-70096000	Weak transcription	Ovary	ovary
13	chr14:70090200-70093800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:70090400-70098600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:70090600-70093800	Enhancers	Liver	Liver
16	chr14:70090800-70092800	Enhancers	Colon Smooth Muscle	Colon
17	chr14:70090800-70093200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr14:70091000-70092800	Enhancers	Pancreas	Pancrea
19	chr14:70091000-70093000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:70091400-70093200	Enhancers	Duodenum Mucosa	Duodenum
21	chr14:70091600-70093000	Enhancers	Fetal Heart	heart
22	chr14:70091800-70092600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr14:70091800-70092600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr14:70091800-70092600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr14:70091800-70092800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr14:70091800-70092800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr14:70091800-70092800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:70091800-70092800	Enhancers	Fetal Kidney	kidney
29	chr14:70091800-70092800	Flanking Active TSS	Thymus	Thymus
30	chr14:70091800-70093000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr14:70091800-70093000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr14:70091800-70093000	Flanking Active TSS	Dnd41	blood
33	chr14:70091800-70093200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr14:70091800-70093200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr14:70091800-70093200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:70091800-70093200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:70091800-70093200	Flanking Active TSS	GM12878-XiMat	blood
38	chr14:70091800-70093400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr14:70091800-70093600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:70091800-70101000	Enhancers	Left Ventricle	heart
41	chr14:70092000-70092600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:70092000-70092600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:70092000-70092600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:70092000-70092600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr14:70092000-70092600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr14:70092000-70092600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:70092000-70092600	Enhancers	HepG2	liver
48	chr14:70092000-70092800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:70092000-70092800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:70092000-70092800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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