Variant report

Variant	rs179732
Chromosome Location	chr14:31490589-31490590
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	POLR2A	chr14:31490123-31491112	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:31490168-31490606	K562	blood:	n/a	n/a
3	POLR2A	chr14:31489770-31491078	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:31489906-31490614	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
AP4S1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10129393	0.85[ASN][1000 genomes]
rs10483354	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1474800	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17097598	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179716	0.90[ASN][1000 genomes]
rs179729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955562	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1955563	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1955566	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2179932	0.90[ASN][1000 genomes]
rs2750114	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3736743	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742920	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981083	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4981801	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58011377	0.85[AMR][1000 genomes]
rs61116407	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7142286	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153166	0.81[ASN][1000 genomes]
rs7158412	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7158988	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73256099	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73257912	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73260377	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74040963	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8008339	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010398	0.90[ASN][1000 genomes]
rs8010967	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020369	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9635154	1.00[EUR][1000 genomes];0.83[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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31442400-31494400	Weak transcription	Gastric	stomach
2	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:31458600-31494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:31461200-31492400	Weak transcription	Fetal Kidney	kidney
5	chr14:31461200-31494400	Weak transcription	Small Intestine	intestine
6	chr14:31464200-31493600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:31464400-31492400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:31465400-31492400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:31467800-31492000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:31467800-31493000	Weak transcription	HSMMtube	muscle
11	chr14:31467800-31493400	Weak transcription	Brain Angular Gyrus	brain
12	chr14:31468000-31493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:31468400-31493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:31468400-31493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:31468800-31493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:31469200-31492000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:31469800-31492600	Weak transcription	Fetal Brain Male	brain
18	chr14:31470000-31493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:31470400-31492000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:31470400-31493200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:31470600-31493200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:31472800-31492800	Weak transcription	Fetal Brain Female	brain
23	chr14:31473000-31493000	Weak transcription	Brain Substantia Nigra	brain
24	chr14:31474200-31493200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:31475600-31492200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:31476200-31493200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:31476200-31493200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:31478400-31493200	Weak transcription	Aorta	Aorta
29	chr14:31482600-31492600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:31482600-31493000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:31482600-31493200	Weak transcription	Brain Germinal Matrix	brain
32	chr14:31482600-31494400	Weak transcription	Lung	lung
33	chr14:31484600-31491800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:31484600-31493200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:31485400-31492200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:31485600-31492800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:31485800-31492600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:31486000-31493800	Weak transcription	Colonic Mucosa	Colon
39	chr14:31486800-31490800	Strong transcription	NHEK	skin
40	chr14:31486800-31492200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:31487000-31491600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:31487400-31491000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:31487400-31491000	Strong transcription	Primary B cells from cord blood	blood
44	chr14:31487400-31492000	Genic enhancers	HepG2	liver
45	chr14:31487400-31492200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:31487400-31492200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:31487600-31491200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr14:31487800-31492000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:31487800-31492000	Weak transcription	Brain Anterior Caudate	brain
50	chr14:31487800-31493200	Weak transcription	Right Ventricle	heart

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