Variant report

Variant	rs45547237
Chromosome Location	chr14:35263858-35263859
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1200395	0.95[ASN][1000 genomes]
rs12434654	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12437059	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17102754	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17102817	0.95[AMR][1000 genomes]
rs17102823	0.87[AMR][1000 genomes]
rs1953431	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4270078	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4981249	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4981254	0.98[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4982225	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4982227	0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5005325	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7143293	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8010444	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35219400-35267000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:35221400-35280800	Strong transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:35221600-35274600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:35226000-35273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:35226000-35274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:35226400-35267000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:35227600-35267000	Weak transcription	Stomach Mucosa	stomach
8	chr14:35228000-35264600	Weak transcription	Brain Substantia Nigra	brain
9	chr14:35230000-35267000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:35231200-35291800	Weak transcription	Fetal Brain Male	brain
11	chr14:35232000-35269800	Weak transcription	Fetal Heart	heart
12	chr14:35232600-35267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
14	chr14:35234200-35267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:35234200-35267000	Weak transcription	Pancreas	Pancrea
16	chr14:35234200-35271400	Weak transcription	Brain Angular Gyrus	brain
17	chr14:35234200-35271400	Weak transcription	Brain Anterior Caudate	brain
18	chr14:35234200-35274200	Weak transcription	Aorta	Aorta
19	chr14:35234200-35276000	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:35234400-35267000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:35242400-35267400	Weak transcription	Ovary	ovary
23	chr14:35245600-35266800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:35245600-35266800	Weak transcription	Spleen	Spleen
25	chr14:35245600-35271400	Weak transcription	Small Intestine	intestine
26	chr14:35246000-35267000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:35246200-35266800	Weak transcription	Right Ventricle	heart
28	chr14:35246400-35271400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:35250200-35271400	Weak transcription	NHLF	lung
30	chr14:35251600-35267000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:35251600-35267200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:35251600-35276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:35251600-35284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:35252200-35301000	Weak transcription	Psoas Muscle	Psoas
35	chr14:35252400-35265400	Weak transcription	Fetal Lung	lung
36	chr14:35252600-35277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:35253000-35274000	Weak transcription	Colonic Mucosa	Colon
38	chr14:35253200-35264000	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:35253200-35267000	Weak transcription	Fetal Brain Female	brain
40	chr14:35253200-35267200	Weak transcription	A549	lung
41	chr14:35253200-35268600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:35253200-35271600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr14:35253400-35266800	Weak transcription	Esophagus	oesophagus
44	chr14:35253400-35267200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:35253400-35269800	Weak transcription	HSMMtube	muscle
46	chr14:35254200-35266400	Weak transcription	Lung	lung
47	chr14:35254400-35268600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:35256600-35264000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:35256800-35272400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:35257200-35265000	Strong transcription	HSMM	muscle

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