Variant report

Variant	rs10511797
Chromosome Location	chr9:26955661-26955662
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	TBL1XR1	chr9:26955405-26956584	GM12878	blood:	n/a	n/a
2	POLR2A	chr9:26955190-26955716	K562	blood:	n/a	n/a
3	POLR2A	chr9:26955182-26957152	NB4	blood:	n/a	n/a
4	MAX	chr9:26955000-26957093	NB4	blood:	n/a	n/a
5	POLR2A	chr9:26955168-26955718	GM12891	blood:	n/a	n/a
6	MXI1	chr9:26955031-26957368	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr9:26955604-26956995	HepG2	liver:	n/a	n/a
8	CUX1	chr9:26954807-26956463	K562	blood:	n/a	n/a
9	IRF1	chr9:26955380-26957063	K562	blood:	n/a	n/a
10	MXI1	chr9:26955572-26957094	GM12878	blood:	n/a	n/a
11	POLR2A	chr9:26955146-26956874	GM12892	blood:	n/a	n/a
12	POLR2A	chr9:26953902-26957243	PBDE	blood:	n/a	n/a
13	CEBPB	chr9:26955150-26956641	K562	blood:	n/a	chr9:26956055-26956064 chr9:26956053-26956066 chr9:26956055-26956064 chr9:26956053-26956064 chr9:26956053-26956066 chr9:26956055-26956066 chr9:26956055-26956064 chr9:26956055-26956064
14	POLR2A	chr9:26955157-26955723	GM12892	blood:	n/a	n/a
15	STAT3	chr9:26955365-26955661	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr9:26954987-26955751	GM12892	blood:	n/a	n/a
17	POLR2A	chr9:26955135-26957202	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:26955056-26955697	GM12892	blood:	n/a	n/a
19	ZNF384	chr9:26955165-26956551	K562	blood:	n/a	n/a
20	EP300	chr9:26955247-26957256	K562	blood:	n/a	chr9:26956501-26956510
21	UBTF	chr9:26955137-26956970	K562	blood:	n/a	n/a
22	POLR2A	chr9:26955303-26957779	MCF10A-Er-Src	breast:	n/a	n/a
23	CHD2	chr9:26955522-26957016	Hela-S3	cervix:	n/a	chr9:26956299-26956308
24	MAZ	chr9:26955202-26957209	K562	blood:	n/a	n/a
25	HCFC1	chr9:26955383-26956801	K562	blood:	n/a	n/a
26	STAT3	chr9:26955308-26955722	MCF10A-Er-Src	breast:	n/a	chr9:26955692-26955699
27	POLR2A	chr9:26955489-26957217	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr9:26955070-26955683	GM12892	blood:	n/a	n/a
29	POLR2A	chr9:26955153-26956817	GM18505	blood:	n/a	n/a
30	CHD2	chr9:26955308-26956897	GM12878	blood:	n/a	chr9:26956299-26956308
31	CUX1	chr9:26954962-26955821	GM12878	blood:	n/a	n/a
32	TBP	chr9:26955301-26956698	GM12878	blood:	n/a	n/a
33	IRF1	chr9:26955155-26957920	K562	blood:	n/a	n/a
34	CEBPB	chr9:26955619-26956788	IMR90	lung:	n/a	chr9:26956055-26956064 chr9:26956053-26956066 chr9:26956055-26956064 chr9:26956053-26956064 chr9:26956053-26956066 chr9:26956055-26956066 chr9:26956055-26956064 chr9:26956055-26956064
35	MYC	chr9:26955145-26957236	NB4	blood:	n/a	n/a
36	YY1	chr9:26955336-26955678	GM12892	blood:	n/a	n/a
37	MYC	chr9:26955196-26956834	K562	blood:	n/a	n/a
38	JUND	chr9:26955193-26956674	K562	blood:	n/a	n/a
39	TBL1XR1	chr9:26954680-26957417	K562	blood:	n/a	n/a
40	KAP1	chr9:26955005-26957099	HEK293	kidney:	n/a	n/a
41	CHD2	chr9:26955300-26956915	K562	blood:	n/a	chr9:26956299-26956308
42	CHD1	chr9:26955542-26956203	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr9:26955083-26957084	GM12891	blood:	n/a	n/a
44	POLR2A	chr9:26955314-26956988	GM12878	blood:	n/a	n/a
45	POLR2A	chr9:26955580-26956818	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:26890425..26894629-chr9:26953159..26958312,6	K562	blood:
2	chr14:24911673..24912301-chr9:26955615..26956257,2	NB4	blood:
3	chr9:26889862..26894629-chr9:26953159..26958871,9	K562	blood:
4	chr9:26891902..26893962-chr9:26955453..26958235,3	MCF-7	breast:
5	chr9:26943098..26949574-chr9:26949927..26957421,13	K562	blood:
6	chr9:26949977..26952390-chr9:26952885..26955695,2	MCF-7	breast:

Variant related genes	Relation type
IFT74	TF binding region
ENSG00000096872	Chromatin interaction
ENSG00000120159	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000137055	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10511791	0.83[CEU][hapmap]
rs10511792	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511794	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511795	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967586	0.83[CEU][hapmap]
rs12353269	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1336332	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1541145	1.00[ASW][hapmap];0.91[CEU][hapmap];0.94[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16910873	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17694127	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17694324	0.91[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17694499	0.91[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17694631	0.86[AFR][1000 genomes]
rs17756179	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756299	1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184740	0.86[EUR][1000 genomes]
rs3429	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs57890470	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59100252	0.98[EUR][1000 genomes]
rs59175724	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60130669	0.80[AFR][1000 genomes]
rs62542660	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62542663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62542665	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62542666	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62542667	0.95[AFR][1000 genomes]
rs62542669	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62542670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62542672	0.90[AFR][1000 genomes]
rs62542704	0.90[AFR][1000 genomes]
rs62542705	0.86[AFR][1000 genomes]
rs62542706	0.86[AFR][1000 genomes]
rs62542707	0.86[AFR][1000 genomes]
rs62542708	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62544403	0.81[EUR][1000 genomes]
rs62544411	1.00[ASN][1000 genomes]
rs62544412	1.00[ASN][1000 genomes]
rs62544413	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62544434	1.00[ASN][1000 genomes]
rs62544435	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62544437	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62544440	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62544453	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62546682	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62546683	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62546685	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018962	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030424	1.00[YRI][hapmap]
rs7036055	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7036871	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7038875	0.80[AFR][1000 genomes]
rs7044910	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs73433937	0.86[EUR][1000 genomes]
rs73436012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73436044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73436047	0.95[AFR][1000 genomes]
rs73438223	0.90[AFR][1000 genomes]
rs73438278	0.80[AFR][1000 genomes]
rs73438282	0.80[AFR][1000 genomes]
rs73438302	0.80[AFR][1000 genomes]
rs73440204	0.80[AFR][1000 genomes]
rs73440205	0.80[AFR][1000 genomes]
rs73440214	0.80[AFR][1000 genomes]
rs73440217	0.80[AFR][1000 genomes]
rs7865596	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7865919	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10511797	CAAP1	cis	Artery Tibial	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26948200-26955800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:26953800-26956000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr9:26954800-26955800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:26954800-26958200	Active TSS	K562	blood
5	chr9:26955000-26955800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:26955000-26955800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:26955200-26955800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:26955200-26955800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:26955200-26955800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:26955200-26955800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:26955200-26955800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:26955200-26955800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr9:26955200-26955800	Enhancers	Primary B cells from peripheral blood	blood
14	chr9:26955200-26955800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:26955200-26955800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:26955200-26955800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:26955200-26955800	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr9:26955200-26955800	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr9:26955200-26955800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr9:26955200-26955800	Enhancers	Esophagus	oesophagus
21	chr9:26955200-26955800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr9:26955200-26955800	Enhancers	Fetal Heart	heart
23	chr9:26955200-26955800	Flanking Active TSS	Fetal Kidney	kidney
24	chr9:26955200-26955800	Enhancers	Fetal Thymus	thymus
25	chr9:26955200-26955800	Enhancers	Stomach Mucosa	stomach
26	chr9:26955200-26955800	Flanking Active TSS	NHEK	skin
27	chr9:26955200-26955800	Flanking Active TSS	NHLF	lung
28	chr9:26955200-26956000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:26955200-26956000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr9:26955200-26956000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr9:26955200-26956000	Flanking Active TSS	Dnd41	blood
32	chr9:26955200-26956000	Flanking Active TSS	Osteobl	bone
33	chr9:26955200-26956200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:26955200-26956200	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr9:26955200-26956200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr9:26955200-26956200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr9:26955200-26956200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr9:26955200-26956200	Flanking Active TSS	GM12878-XiMat	blood
39	chr9:26955200-26956800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr9:26955200-26957000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:26955200-26957000	Active TSS	Colonic Mucosa	Colon
42	chr9:26955200-26957000	Active TSS	Gastric	stomach
43	chr9:26955200-26957200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:26955200-26957200	Active TSS	Rectal Smooth Muscle	rectum
45	chr9:26955200-26957400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:26955200-26957400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:26955200-26957600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:26955200-26957800	Active TSS	Fetal Brain Male	brain
49	chr9:26955200-26957800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr9:26955400-26955800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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