Variant report

Variant	rs55717811
Chromosome Location	chr14:71249471-71249472
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11621269	0.91[AFR][1000 genomes]
rs12437037	0.88[AFR][1000 genomes]
rs12590049	1.00[ASN][1000 genomes]
rs17108546	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177097	1.00[ASN][1000 genomes]
rs17177187	0.84[EUR][1000 genomes]
rs17766621	0.84[EUR][1000 genomes]
rs1859463	0.84[EUR][1000 genomes]
rs35506365	0.81[ASN][1000 genomes]
rs4902856	0.84[EUR][1000 genomes]
rs55881198	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56327470	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153836	0.83[EUR][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71220800-71266400	Weak transcription	Fetal Intestine Large	intestine
2	chr14:71222200-71258200	Weak transcription	HepG2	liver
3	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
4	chr14:71223000-71258400	Weak transcription	Primary T cells from cord blood	blood
5	chr14:71223000-71266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:71224000-71258000	Weak transcription	Dnd41	blood
7	chr14:71227800-71257800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:71228000-71258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:71228000-71258000	Weak transcription	A549	lung
10	chr14:71228200-71251400	Weak transcription	Fetal Brain Female	brain
11	chr14:71228200-71258000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:71238600-71266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:71239000-71252400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:71239000-71258000	Weak transcription	Fetal Intestine Small	intestine
15	chr14:71239000-71269600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:71239200-71258200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:71239400-71258200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:71239800-71258400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:71240000-71258000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:71240200-71257800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:71240600-71250400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:71240600-71255600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:71240600-71258000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:71240800-71250200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:71242400-71258200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:71242400-71266600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:71242600-71266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:71244200-71255800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:71245200-71249800	Enhancers	Primary B cells from peripheral blood	blood
30	chr14:71245800-71255200	Weak transcription	Psoas Muscle	Psoas
31	chr14:71246200-71250800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:71246200-71258000	Weak transcription	Brain Germinal Matrix	brain
33	chr14:71246800-71255800	Weak transcription	Spleen	Spleen
34	chr14:71246800-71266800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:71247000-71258200	Weak transcription	Liver	Liver
36	chr14:71247200-71254600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:71247400-71266600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:71247600-71249800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:71247600-71256600	Weak transcription	Placenta	Placenta
40	chr14:71247800-71274600	Weak transcription	Stomach Mucosa	stomach
41	chr14:71248000-71249600	Enhancers	GM12878-XiMat	blood
42	chr14:71248200-71258000	Weak transcription	Gastric	stomach
43	chr14:71248200-71258000	Weak transcription	Pancreas	Pancrea
44	chr14:71248200-71271200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:71248400-71249800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr14:71248400-71250800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:71248400-71252200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:71248600-71249800	Enhancers	Osteobl	bone
49	chr14:71248600-71250000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:71248800-71249600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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