Variant report

Variant	rs10133374
Chromosome Location	chr14:32175348-32175349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10138795	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140944	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156699	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11624477	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050202	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12050415	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12897779	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373013	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373014	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373015	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2120134	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981115	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59626793	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571457	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6571461	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7146010	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153589	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253205	1.00[ASN][1000 genomes]
rs8008383	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009008	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013999	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8015946	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018230	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv901591	chr14:32093548-32202677	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv901592	chr14:32093548-32267323	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32141400-32175800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:32148000-32183600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:32159000-32184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:32162000-32186800	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:32165000-32179600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:32165600-32188200	Weak transcription	Right Ventricle	heart
7	chr14:32166400-32177800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:32166600-32176200	Weak transcription	Liver	Liver
9	chr14:32167200-32177000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:32168800-32176800	Weak transcription	Left Ventricle	heart
11	chr14:32169600-32177200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:32169600-32181800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:32170400-32175400	Weak transcription	Fetal Lung	lung
14	chr14:32171000-32186400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:32171000-32200600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:32171600-32176400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:32171800-32176000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:32171800-32176800	Weak transcription	A549	lung
19	chr14:32171800-32182200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:32172000-32186400	Weak transcription	Pancreas	Pancrea
21	chr14:32172000-32188200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:32172200-32180000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:32172400-32175400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:32172400-32175400	ZNF genes & repeats	Dnd41	blood
25	chr14:32172400-32175600	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr14:32173000-32175400	Strong transcription	Ovary	ovary
27	chr14:32173000-32183000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:32173200-32182200	Weak transcription	Thymus	Thymus
29	chr14:32173400-32175400	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr14:32173400-32186400	Weak transcription	Esophagus	oesophagus
31	chr14:32173400-32189800	Weak transcription	Primary B cells from cord blood	blood
32	chr14:32173400-32218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:32173800-32175400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:32174000-32175400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:32174200-32185600	Weak transcription	HepG2	liver
36	chr14:32174400-32175400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:32174400-32175400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:32174400-32175400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr14:32174400-32175400	ZNF genes & repeats	Spleen	Spleen
40	chr14:32174400-32177800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:32174600-32175600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:32174600-32179200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:32174600-32179400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:32174600-32200000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:32174800-32175400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:32174800-32175600	ZNF genes & repeats	Fetal Stomach	stomach
47	chr14:32175000-32175400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:32175000-32175400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:32175000-32175400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:32175000-32175400	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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