Variant report

Variant	rs12586646
Chromosome Location	chr14:55120151-55120152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55032687..55034236-chr14:55119438..55121090,2	MCF-7	breast:
2	chr14:55119482..55121341-chr14:55121641..55124299,2	MCF-7	breast:
3	chr14:55031461..55035668-chr14:55117629..55122192,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11158019	0.91[ASN][1000 genomes]
rs12586705	0.95[ASN][1000 genomes]
rs12590927	0.87[ASN][1000 genomes]
rs12888372	0.98[ASN][1000 genomes]
rs12890352	0.91[ASN][1000 genomes]
rs17728293	0.91[ASN][1000 genomes]
rs2025130	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35399674	0.90[ASN][1000 genomes]
rs4553503	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4898844	0.92[ASN][1000 genomes]
rs7151563	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7155089	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7158091	0.91[ASN][1000 genomes]
rs8011374	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8022597	0.86[EUR][1000 genomes]
rs911621	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv974464	chr14:55092217-55152792	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55107600-55121400	Weak transcription	Pancreas	Pancrea
2	chr14:55109600-55121400	Weak transcription	Spleen	Spleen
3	chr14:55113200-55122000	Enhancers	Fetal Heart	heart
4	chr14:55114800-55120200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:55116000-55121400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:55116200-55122000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:55116600-55121600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:55117000-55121000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr14:55117000-55121600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55117000-55121600	Enhancers	Placenta	Placenta
11	chr14:55117200-55121600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:55117600-55121800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:55117600-55129400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:55117800-55120400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:55117800-55120400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:55118000-55120200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:55118000-55120400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:55118200-55120400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:55118200-55120600	Weak transcription	Colonic Mucosa	Colon
20	chr14:55118400-55121400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr14:55119000-55132400	Enhancers	HepG2	liver
22	chr14:55119200-55120200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:55119200-55120200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:55119200-55121800	Enhancers	Psoas Muscle	Psoas
25	chr14:55119400-55120200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr14:55119400-55120200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:55119400-55122200	Enhancers	Left Ventricle	heart
28	chr14:55119600-55121400	Weak transcription	Brain Substantia Nigra	brain
29	chr14:55119600-55121600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:55119600-55121800	Enhancers	Lung	lung
31	chr14:55119600-55122200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:55119600-55122200	Enhancers	Right Ventricle	heart
33	chr14:55119800-55120200	Active TSS	HSMMtube	muscle
34	chr14:55119800-55120400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:55119800-55120600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:55119800-55120800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:55119800-55120800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:55119800-55120800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:55119800-55120800	Enhancers	Hela-S3	cervix
40	chr14:55119800-55121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:55119800-55121400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:55119800-55121600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr14:55119800-55121600	Enhancers	Brain Anterior Caudate	brain
44	chr14:55119800-55121600	Enhancers	Colon Smooth Muscle	Colon
45	chr14:55119800-55121600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr14:55119800-55121800	Enhancers	Fetal Lung	lung
47	chr14:55119800-55122000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:55119800-55122200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr14:55119800-55135800	Weak transcription	Fetal Brain Male	brain
50	chr14:55120000-55120200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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