Variant report

Variant	rs4981249
Chromosome Location	chr14:35254255-35254256
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr14:35254193-35255079	GM12878	blood:	n/a	chr14:35254590-35254603 chr14:35254589-35254602 chr14:35254596-35254605 chr14:35254934-35254947

Variant related genes	Relation type
BAZ1A	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1200395	0.93[ASN][1000 genomes]
rs12434654	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12437059	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17102754	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17102817	0.93[AMR][1000 genomes]
rs17102823	0.84[AMR][1000 genomes]
rs1953431	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4270078	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45547237	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4981254	0.95[AMR][1000 genomes]
rs4982225	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4982227	0.94[AMR][1000 genomes]
rs5005325	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143293	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8010444	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35219400-35262000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr14:35219400-35267000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:35219600-35254600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:35221000-35255800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:35221200-35262000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr14:35221400-35280800	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:35221600-35255400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:35221600-35258800	Strong transcription	Dnd41	blood
9	chr14:35221600-35274600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:35226000-35273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:35226000-35274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:35226400-35267000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:35227600-35255600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:35227600-35267000	Weak transcription	Stomach Mucosa	stomach
15	chr14:35228000-35264600	Weak transcription	Brain Substantia Nigra	brain
16	chr14:35230000-35267000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:35231200-35291800	Weak transcription	Fetal Brain Male	brain
18	chr14:35232000-35269800	Weak transcription	Fetal Heart	heart
19	chr14:35232600-35267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
21	chr14:35234200-35267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:35234200-35267000	Weak transcription	Pancreas	Pancrea
23	chr14:35234200-35271400	Weak transcription	Brain Angular Gyrus	brain
24	chr14:35234200-35271400	Weak transcription	Brain Anterior Caudate	brain
25	chr14:35234200-35274200	Weak transcription	Aorta	Aorta
26	chr14:35234200-35276000	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:35234400-35267000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:35237800-35255800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:35238200-35256000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:35240000-35255800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:35240200-35255600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr14:35240200-35255600	Strong transcription	Fetal Thymus	thymus
34	chr14:35241000-35255600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr14:35242400-35267400	Weak transcription	Ovary	ovary
36	chr14:35244000-35260200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:35244200-35258200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:35244800-35255200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:35245600-35259400	Weak transcription	Gastric	stomach
40	chr14:35245600-35261000	Weak transcription	Brain Germinal Matrix	brain
41	chr14:35245600-35266800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:35245600-35266800	Weak transcription	Spleen	Spleen
43	chr14:35245600-35271400	Weak transcription	Small Intestine	intestine
44	chr14:35245800-35263600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:35246000-35267000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:35246200-35266800	Weak transcription	Right Ventricle	heart
47	chr14:35246400-35271400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr14:35247400-35255200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:35248200-35255600	Strong transcription	Liver	Liver
50	chr14:35248400-35259400	Weak transcription	Fetal Stomach	stomach

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