Variant report

Variant	rs74060235
Chromosome Location	chr14:70092614-70092615
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: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1275832	1.00[AMR][1000 genomes]
rs17107164	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107165	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2783512	1.00[AMR][1000 genomes]
rs55954221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56192566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57105079	1.00[AMR][1000 genomes]
rs61636155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060225	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060242	0.83[AFR][1000 genomes]
rs74060243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060250	1.00[AMR][1000 genomes]
rs9671513	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	chr14:70083400-70093400	Enhancers	Brain Hippocampus Middle	brain
4	chr14:70083400-70095200	Weak transcription	Fetal Intestine Large	intestine
5	chr14:70083400-70097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:70087200-70100000	Weak transcription	NHEK	skin
7	chr14:70088000-70098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:70088600-70095800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:70088600-70099200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:70089400-70092800	Enhancers	HMEC	breast
11	chr14:70089600-70096000	Weak transcription	Ovary	ovary
12	chr14:70090200-70093800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:70090400-70098600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:70090600-70093800	Enhancers	Liver	Liver
15	chr14:70090800-70092800	Enhancers	Colon Smooth Muscle	Colon
16	chr14:70090800-70093200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr14:70091000-70092800	Enhancers	Pancreas	Pancrea
18	chr14:70091000-70093000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:70091400-70093200	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:70091600-70093000	Enhancers	Fetal Heart	heart
21	chr14:70091800-70092800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr14:70091800-70092800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr14:70091800-70092800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:70091800-70092800	Enhancers	Fetal Kidney	kidney
25	chr14:70091800-70092800	Flanking Active TSS	Thymus	Thymus
26	chr14:70091800-70093000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr14:70091800-70093000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr14:70091800-70093000	Flanking Active TSS	Dnd41	blood
29	chr14:70091800-70093200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr14:70091800-70093200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:70091800-70093200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr14:70091800-70093200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:70091800-70093200	Flanking Active TSS	GM12878-XiMat	blood
34	chr14:70091800-70093400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr14:70091800-70093600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:70091800-70101000	Enhancers	Left Ventricle	heart
37	chr14:70092000-70092800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:70092000-70092800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:70092000-70092800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:70092000-70092800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:70092000-70092800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:70092000-70092800	Enhancers	Colonic Mucosa	Colon
43	chr14:70092000-70092800	Genic enhancers	Fetal Stomach	stomach
44	chr14:70092000-70092800	Enhancers	Gastric	stomach
45	chr14:70092000-70092800	Enhancers	Lung	lung
46	chr14:70092000-70092800	Enhancers	Rectal Smooth Muscle	rectum
47	chr14:70092000-70092800	Enhancers	Small Intestine	intestine
48	chr14:70092000-70092800	Enhancers	HSMM	muscle
49	chr14:70092000-70092800	Enhancers	HSMMtube	muscle
50	chr14:70092000-70092800	Flanking Active TSS	HUVEC	blood vessel

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