Variant report

Variant	rs10511795
Chromosome Location	chr9:26953102-26953103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:26943098..26949574-chr9:26949927..26957421,13	K562	blood:
2	chr9:26951108..26953952-chr9:26958227..26960200,3	K562	blood:
3	chr9:26949977..26952390-chr9:26952885..26955695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096872	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];0.86[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]
rs10511797	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];1.00[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];0.86[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];0.86[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
rs10511795	CAAP1	cis	Artery Tibial	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26947600-26955200	Weak transcription	Spleen	Spleen
2	chr9:26948000-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:26948200-26953600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr9:26948200-26953600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr9:26948200-26954000	Weak transcription	Osteobl	bone
6	chr9:26948200-26955000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:26948200-26955000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:26948200-26955000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:26948200-26955000	Weak transcription	Adipose Nuclei	Adipose
10	chr9:26948200-26955000	Weak transcription	Brain Angular Gyrus	brain
11	chr9:26948200-26955000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:26948200-26955000	Weak transcription	Brain Substantia Nigra	brain
13	chr9:26948200-26955000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:26948200-26955000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:26948200-26955000	Weak transcription	NHDF-Ad	bronchial
16	chr9:26948200-26955000	Weak transcription	NHLF	lung
17	chr9:26948200-26955200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:26948200-26955200	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:26948200-26955400	Weak transcription	Psoas Muscle	Psoas
20	chr9:26948200-26955800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:26948400-26953800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:26948400-26954000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:26948400-26954200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:26948400-26954600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:26948400-26955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:26948400-26955200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr9:26948400-26955200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr9:26948400-26955200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:26948400-26955200	Weak transcription	Liver	Liver
30	chr9:26949800-26954800	Weak transcription	A549	lung
31	chr9:26949800-26955200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:26949800-26955400	Weak transcription	NH-A	brain
33	chr9:26950000-26953800	Weak transcription	Small Intestine	intestine
34	chr9:26950000-26954000	Weak transcription	HepG2	liver
35	chr9:26950000-26955200	Weak transcription	HMEC	breast
36	chr9:26950000-26955200	Weak transcription	NHEK	skin
37	chr9:26950600-26955200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:26950600-26955400	Weak transcription	Hela-S3	cervix
39	chr9:26952800-26953800	Enhancers	K562	blood

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