Variant report

Variant	rs605025
Chromosome Location	chr1:155887772-155887773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155887563-155888749	K562	blood:	n/a	n/a
2	POLR2A	chr1:155887451-155888661	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:155887380-155888021	U87	brain:	n/a	n/a
4	POLR2A	chr1:155887544-155889563	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:155887546-155889171	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:155887608-155888173	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:155887508-155889294	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:155887637-155888865	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:155887530-155888375	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr1:155887623-155887838	GM12891	blood:	n/a	n/a
11	POLR2A	chr1:155887589-155888778	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:155887542-155888401	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:155887694-155888578	A549	lung:	n/a	n/a
14	POLR2A	chr1:155887459-155888893	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr1:155887640-155887846	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:155887394-155889287	GM12892	blood:	n/a	n/a
17	POLR2A	chr1:155887487-155888649	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:155887699-155888445	K562	blood:	n/a	n/a
19	POLR2A	chr1:155887759-155887846	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:155887576-155887898	K562	blood:	n/a	n/a
21	POLR2A	chr1:155887447-155888768	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:155887537-155888160	K562	blood:	n/a	n/a
23	POLR2A	chr1:155887531-155888850	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155879962..155882698-chr1:155885713..155888748,6	MCF-7	breast:
2	chr1:155886446..155889315-chr1:155891055..155892735,3	K562	blood:

No data

Variant related genes	Relation type
KIAA0907	TF binding region
ENSG00000143622	Chromatin interaction
ENSG00000132680	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1010033	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1018730	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1055184	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10908485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11264421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12039053	0.97[EUR][1000 genomes]
rs12138833	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12747344	1.00[CEU][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs1544119	1.00[CEU][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap]
rs1749407	0.92[EUR][1000 genomes]
rs1749408	0.86[EUR][1000 genomes]
rs1749409	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1765275	0.85[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1964951	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2275079	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2275081	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2364402	0.97[EUR][1000 genomes]
rs2364404	1.00[CEU][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs28379575	0.96[EUR][1000 genomes]
rs2886069	0.97[EUR][1000 genomes]
rs34802187	0.99[EUR][1000 genomes]
rs35138477	0.82[EUR][1000 genomes]
rs35374730	0.99[EUR][1000 genomes]
rs35588936	0.89[CEU][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs35730001	0.96[EUR][1000 genomes]
rs3768280	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4412586	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4661160	0.97[EUR][1000 genomes]
rs4661162	1.00[CEU][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs4661170	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4661172	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs493446	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs506688	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs527113	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs536870	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs572609	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6660802	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6667096	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6687169	1.00[ASW][hapmap]
rs708614	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71628697	1.00[EUR][1000 genomes]
rs71628699	0.84[EUR][1000 genomes]
rs822502	0.91[EUR][1000 genomes]
rs822503	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs822519	1.00[CEU][hapmap]
rs822653	0.87[AMR][1000 genomes];0.99[EUR][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs605025	MSTO1	cis	brain	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155881400-155889600	Weak transcription	Pancreas	Pancrea
2	chr1:155881400-155890400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:155881600-155889800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:155881600-155890800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:155881800-155893600	Strong transcription	HMEC	breast
6	chr1:155881800-155898800	Strong transcription	HUVEC	blood vessel
7	chr1:155881800-155899800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:155881800-155900600	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:155881800-155901200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:155881800-155901200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:155882000-155888800	Strong transcription	Primary hematopoietic stem cells	blood
12	chr1:155882000-155898800	Strong transcription	NH-A	brain
13	chr1:155882000-155899400	Strong transcription	Fetal Intestine Large	intestine
14	chr1:155882000-155899800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr1:155882000-155900000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:155882000-155900000	Strong transcription	Liver	Liver
17	chr1:155882000-155900200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:155882000-155900400	Strong transcription	Primary B cells from cord blood	blood
19	chr1:155882000-155900600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:155882000-155900600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:155882000-155900600	Strong transcription	Placenta	Placenta
22	chr1:155882000-155900600	Strong transcription	Fetal Stomach	stomach
23	chr1:155882000-155900600	Strong transcription	Left Ventricle	heart
24	chr1:155882000-155900800	Strong transcription	Thymus	Thymus
25	chr1:155882000-155901000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:155882000-155901400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:155882000-155901400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:155882200-155898600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:155882200-155900200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:155882200-155900600	Strong transcription	Fetal Thymus	thymus
31	chr1:155882200-155901000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:155882200-155901000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:155882200-155901200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:155882200-155901400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:155882200-155901400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:155882200-155901400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:155882200-155903000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:155882400-155893800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:155882400-155898800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:155882400-155900000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:155882400-155900000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:155882400-155900000	Strong transcription	Adipose Nuclei	Adipose
43	chr1:155882400-155900200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr1:155882600-155888800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:155882600-155889400	Strong transcription	Colon Smooth Muscle	Colon
46	chr1:155882600-155898800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:155882600-155899000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:155882600-155899000	Strong transcription	NHEK	skin
49	chr1:155882600-155900200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:155882600-155900200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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