Variant report

Variant	rs795483
Chromosome Location	chr12:118590579-118590580
allele	A/G
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	chr12:118588900-118592801	K562	blood:	n/a	n/a
2	POLR2A	chr12:118589789-118590699	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TAOK3	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1151900	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs1277441	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1277442	1.00[CEU][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes]
rs1622210	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1699160	0.91[CEU][hapmap]
rs1726392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs191626	0.95[CEU][hapmap]
rs353888	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs353894	0.84[ASN][1000 genomes]
rs353895	0.82[ASN][1000 genomes]
rs353897	0.95[CEU][hapmap];0.84[YRI][hapmap]
rs383371	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs428073	0.87[CEU][hapmap]
rs431038	0.92[CEU][hapmap]
rs556081	0.91[CEU][hapmap]
rs708867	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs708868	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs795474	0.85[EUR][1000 genomes]
rs795475	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs795476	0.95[CEU][hapmap]
rs795478	0.81[EUR][1000 genomes]
rs795479	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs795480	0.85[ASN][1000 genomes]
rs795484	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[EUR][1000 genomes]
rs811247	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs904661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118575400-118590600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:118575400-118590600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:118575400-118591400	Strong transcription	Fetal Stomach	stomach
4	chr12:118575600-118601600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:118575800-118590600	Strong transcription	Fetal Muscle Leg	muscle
6	chr12:118575800-118590800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr12:118576000-118591600	Strong transcription	Fetal Intestine Large	intestine
8	chr12:118576000-118591600	Strong transcription	Dnd41	blood
9	chr12:118576000-118601200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:118576000-118619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:118576000-118624000	Weak transcription	Stomach Mucosa	stomach
12	chr12:118576200-118590600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:118576200-118591000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:118576200-118591400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:118576200-118595400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:118576400-118591400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:118576600-118590600	Strong transcription	Adipose Nuclei	Adipose
18	chr12:118576600-118590600	Strong transcription	Brain Germinal Matrix	brain
19	chr12:118577400-118601800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:118577600-118590800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:118577600-118599000	Weak transcription	Psoas Muscle	Psoas
22	chr12:118578000-118590800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr12:118578200-118611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:118578600-118603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:118580400-118590600	Strong transcription	Spleen	Spleen
26	chr12:118583800-118595400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:118583800-118598000	Weak transcription	HUVEC	blood vessel
28	chr12:118584000-118591200	Strong transcription	Liver	Liver
29	chr12:118584000-118595000	Weak transcription	HSMMtube	muscle
30	chr12:118584000-118595200	Weak transcription	HSMM	muscle
31	chr12:118584000-118595600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:118584000-118627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:118584200-118595200	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:118584400-118591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:118584800-118591600	Strong transcription	Fetal Brain Female	brain
36	chr12:118585600-118603000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:118585800-118597400	Weak transcription	Hela-S3	cervix
38	chr12:118585800-118619000	Weak transcription	HepG2	liver
39	chr12:118586200-118592200	Strong transcription	GM12878-XiMat	blood
40	chr12:118586200-118592400	Strong transcription	Primary B cells from cord blood	blood
41	chr12:118586200-118601000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:118586200-118619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:118586400-118591600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:118586400-118595200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:118586600-118595400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:118586600-118595600	Weak transcription	Fetal Heart	heart
47	chr12:118586600-118613600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:118586800-118590800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:118586800-118590800	Strong transcription	Thymus	Thymus
50	chr12:118586800-118591000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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