Variant report

Variant	rs55727545
Chromosome Location	chr14:71238898-71238899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71237788..71240582-chr14:71241825..71244076,2	MCF-7	breast:
2	chr14:71212723..71214667-chr14:71236445..71239410,2	MCF-7	breast:
3	chr14:71237542..71240325-chr14:71258119..71261097,3	MCF-7	breast:
4	chr14:71232260..71234567-chr14:71236816..71239226,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12586825	0.92[ASN][1000 genomes]
rs12586828	0.92[ASN][1000 genomes]
rs12586899	0.97[ASN][1000 genomes]
rs17108442	0.92[ASN][1000 genomes]
rs17108473	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2051857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2269946	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286052	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286053	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55634875	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs55724921	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55725720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55897184	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55910358	0.92[ASN][1000 genomes]
rs55941560	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55972082	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56801523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57221433	0.91[ASN][1000 genomes]
rs9972195	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71216600-71245800	Weak transcription	Brain Germinal Matrix	brain
2	chr14:71220800-71240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:71220800-71266400	Weak transcription	Fetal Intestine Large	intestine
4	chr14:71221800-71239600	Weak transcription	Liver	Liver
5	chr14:71222200-71258200	Weak transcription	HepG2	liver
6	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
7	chr14:71223000-71258400	Weak transcription	Primary T cells from cord blood	blood
8	chr14:71223000-71266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:71223400-71240000	Weak transcription	Pancreas	Pancrea
10	chr14:71224000-71258000	Weak transcription	Dnd41	blood
11	chr14:71227800-71245200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:71227800-71245600	Weak transcription	Lung	lung
13	chr14:71227800-71257800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:71228000-71242000	Weak transcription	GM12878-XiMat	blood
15	chr14:71228000-71245600	Weak transcription	Gastric	stomach
16	chr14:71228000-71258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:71228000-71258000	Weak transcription	A549	lung
18	chr14:71228200-71251400	Weak transcription	Fetal Brain Female	brain
19	chr14:71228200-71258000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:71235400-71240800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:71236800-71239200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:71237800-71239400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:71237800-71240000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr14:71237800-71240800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr14:71238000-71239200	Enhancers	HMEC	breast
26	chr14:71238000-71239800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:71238000-71240000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:71238200-71239000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:71238200-71239000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:71238200-71239000	Strong transcription	Fetal Intestine Small	intestine
31	chr14:71238200-71239200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:71238200-71239200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:71238200-71239200	Enhancers	NHEK	skin
34	chr14:71238200-71240200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:71238200-71240600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:71238200-71240600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr14:71238400-71239000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr14:71238400-71239000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:71238400-71239000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:71238400-71239000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:71238400-71239000	Genic enhancers	Esophagus	oesophagus
42	chr14:71238400-71239000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:71238600-71239000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:71238600-71239000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:71238600-71239000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr14:71238600-71239000	Enhancers	Spleen	Spleen
47	chr14:71238600-71239200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr14:71238600-71266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:71238800-71240200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:71238800-71244000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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