Variant report

Variant	rs795482
Chromosome Location	chr12:118590816-118590817
allele	C/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	chr12:118588900-118592801	K562	blood:	n/a	n/a

Variant related genes	Relation type
TAOK3	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1051175	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1092854	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1151901	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs1277175	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1726386	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1726407	0.96[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs2018619	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2088702	0.88[ASW][hapmap];0.84[GIH][hapmap];0.80[JPT][hapmap]
rs2249624	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2463173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353885	0.81[ASN][1000 genomes]
rs353886	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs353887	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs353889	0.85[ASN][1000 genomes]
rs353896	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs364823	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs404566	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs418941	0.92[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.81[ASN][1000 genomes]
rs456228	0.81[ASN][1000 genomes]
rs461499	0.82[ASW][hapmap];0.86[JPT][hapmap]
rs575121	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6490167	0.83[CHB][hapmap]
rs795473	0.88[ASN][1000 genomes]
rs795481	0.92[CEU][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7978165	0.83[CHB][hapmap]
rs7980628	0.85[CHB][hapmap];0.85[JPT][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs795482	PEBP1	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118575400-118591400	Strong transcription	Fetal Stomach	stomach
2	chr12:118575600-118601600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:118576000-118591600	Strong transcription	Fetal Intestine Large	intestine
4	chr12:118576000-118591600	Strong transcription	Dnd41	blood
5	chr12:118576000-118601200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:118576000-118619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:118576000-118624000	Weak transcription	Stomach Mucosa	stomach
8	chr12:118576200-118591000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:118576200-118591400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:118576200-118595400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:118576400-118591400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:118577400-118601800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:118577600-118599000	Weak transcription	Psoas Muscle	Psoas
14	chr12:118578200-118611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:118578600-118603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:118583800-118595400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:118583800-118598000	Weak transcription	HUVEC	blood vessel
18	chr12:118584000-118591200	Strong transcription	Liver	Liver
19	chr12:118584000-118595000	Weak transcription	HSMMtube	muscle
20	chr12:118584000-118595200	Weak transcription	HSMM	muscle
21	chr12:118584000-118595600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:118584000-118627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:118584200-118595200	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:118584400-118591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:118584800-118591600	Strong transcription	Fetal Brain Female	brain
26	chr12:118585600-118603000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:118585800-118597400	Weak transcription	Hela-S3	cervix
28	chr12:118585800-118619000	Weak transcription	HepG2	liver
29	chr12:118586200-118592200	Strong transcription	GM12878-XiMat	blood
30	chr12:118586200-118592400	Strong transcription	Primary B cells from cord blood	blood
31	chr12:118586200-118601000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:118586200-118619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:118586400-118591600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:118586400-118595200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:118586600-118595400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:118586600-118595600	Weak transcription	Fetal Heart	heart
37	chr12:118586600-118613600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:118586800-118591000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:118586800-118591200	Strong transcription	Fetal Thymus	thymus
40	chr12:118586800-118600400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:118586800-118600800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:118586800-118601400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:118586800-118603600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:118587000-118591600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:118587000-118600400	Strong transcription	Primary T cells from cord blood	blood
46	chr12:118587200-118591600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:118587400-118591400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:118587600-118611200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:118587600-118619200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:118587800-118620000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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