Variant report

Variant	rs74060662
Chromosome Location	chr14:70445526-70445527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70439245..70443194-chr14:70444532..70447798,3	MCF-7	breast:
2	chr14:70445195..70447002-chr14:70460330..70462165,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198732	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11848277	1.00[EUR][1000 genomes]
rs2069109	1.00[EUR][1000 genomes]
rs28456261	1.00[EUR][1000 genomes]
rs28468655	1.00[EUR][1000 genomes]
rs56290405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56723492	1.00[EUR][1000 genomes]
rs56837831	1.00[EUR][1000 genomes]
rs57139172	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57292391	1.00[EUR][1000 genomes]
rs57510137	1.00[AMR][1000 genomes]
rs57709257	1.00[EUR][1000 genomes]
rs58673738	1.00[EUR][1000 genomes]
rs59918631	1.00[AMR][1000 genomes]
rs60048839	1.00[EUR][1000 genomes]
rs61059545	1.00[EUR][1000 genomes]
rs61226888	1.00[EUR][1000 genomes]
rs61253398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61382738	1.00[AMR][1000 genomes]
rs61612924	1.00[AMR][1000 genomes]
rs6573926	1.00[EUR][1000 genomes]
rs7148591	1.00[EUR][1000 genomes]
rs7150074	1.00[EUR][1000 genomes]
rs74060658	1.00[EUR][1000 genomes]
rs74060659	1.00[EUR][1000 genomes]
rs74060660	1.00[EUR][1000 genomes]
rs74060661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060665	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060680	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061027	1.00[AMR][1000 genomes]
rs74061030	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70418800-70448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:70430400-70447000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:70433200-70454000	Strong transcription	Liver	Liver
5	chr14:70433600-70445800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:70435400-70447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:70437600-70447000	Strong transcription	Hela-S3	cervix
8	chr14:70439000-70458800	Weak transcription	Gastric	stomach
9	chr14:70439600-70445600	Weak transcription	Fetal Brain Female	brain
10	chr14:70439600-70447000	Weak transcription	Fetal Intestine Small	intestine
11	chr14:70439800-70446000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
13	chr14:70440000-70445800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:70440000-70446200	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:70440000-70446400	Weak transcription	Brain Anterior Caudate	brain
16	chr14:70440200-70446000	Weak transcription	Fetal Intestine Large	intestine
17	chr14:70441000-70446600	Strong transcription	HepG2	liver
18	chr14:70441000-70447400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:70441200-70445600	Weak transcription	Brain Substantia Nigra	brain
20	chr14:70441200-70448600	Weak transcription	Right Atrium	heart
21	chr14:70441400-70451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:70441600-70445600	Weak transcription	Brain Germinal Matrix	brain
23	chr14:70441800-70446400	Weak transcription	NHEK	skin
24	chr14:70442200-70451800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:70442400-70446800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:70442400-70446800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:70442600-70445600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:70443800-70445800	Enhancers	Fetal Stomach	stomach
29	chr14:70443800-70446800	Weak transcription	Pancreas	Pancrea
30	chr14:70443800-70447200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:70444000-70446600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:70444200-70448400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:70444400-70446200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:70444600-70445600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:70444600-70446400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:70444600-70449000	Weak transcription	Fetal Brain Male	brain
37	chr14:70444800-70447200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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