Variant report

Variant	rs11264291
Chromosome Location	chr1:154914797-154914798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154914226..154915730-chr1:154918870..154920477,2	K562	blood:
2	chr1:154908783..154912738-chr1:154912911..154918149,9	K562	blood:
3	chr1:154913036..154915894-chr1:154916436..154918587,2	K562	blood:
4	chr1:154912745..154915347-chr1:154916897..154920361,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163344	Chromatin interaction
ENSG00000270361	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10796935	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10908445	0.81[AMR][1000 genomes]
rs10908446	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10908448	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1109815	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11264282	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11264283	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11264290	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12069356	0.81[AMR][1000 genomes]
rs12095061	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12406380	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1580943	0.82[AMR][1000 genomes]
rs1976559	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1977879	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2061690	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2102423	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2174507	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2335408	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2335409	0.82[EUR][1000 genomes]
rs3738026	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4240874	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4240875	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4339857	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4845398	0.81[AMR][1000 genomes]
rs4845400	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4845678	0.81[AMR][1000 genomes]
rs4845679	0.81[AMR][1000 genomes]
rs4845680	0.82[AMR][1000 genomes]
rs4845682	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4845685	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4845687	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4845688	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4845689	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4845690	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4845692	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4845693	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4845694	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4845695	0.81[ASN][1000 genomes]
rs4845696	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58629129	1.00[ASN][1000 genomes]
rs6656435	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6686873	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6699043	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs705094	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7528532	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs877343	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs883718	0.81[AMR][1000 genomes]
rs906593	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9793588	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11264291	PBXIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154910400-154914800	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:154910400-154914800	Enhancers	Fetal Thymus	thymus
3	chr1:154910400-154916600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:154910400-154916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:154910400-154916800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:154910400-154917000	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:154910400-154920000	Weak transcription	Aorta	Aorta
8	chr1:154910400-154923000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:154910400-154925000	Weak transcription	Psoas Muscle	Psoas
10	chr1:154910600-154914800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:154910600-154915000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:154910600-154915000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:154910600-154915400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:154910600-154916800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:154910600-154927200	Weak transcription	Fetal Kidney	kidney
16	chr1:154910800-154914800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:154910800-154914800	Weak transcription	Osteobl	bone
18	chr1:154910800-154915600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:154910800-154916000	Weak transcription	HUVEC	blood vessel
20	chr1:154910800-154916200	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:154910800-154927200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:154910800-154927200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:154911000-154921400	Weak transcription	NHLF	lung
24	chr1:154911400-154916600	Weak transcription	Fetal Heart	heart
25	chr1:154911400-154917200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:154911800-154914800	Enhancers	Fetal Intestine Small	intestine
27	chr1:154911800-154927400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:154911800-154927400	Weak transcription	NHEK	skin
29	chr1:154912000-154915400	Enhancers	Esophagus	oesophagus
30	chr1:154912200-154914800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:154912200-154917600	Enhancers	Adipose Nuclei	Adipose
32	chr1:154912400-154914800	Enhancers	Fetal Muscle Trunk	muscle
33	chr1:154912400-154915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:154912400-154917200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:154912600-154914800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:154912600-154915000	Enhancers	Primary B cells from cord blood	blood
37	chr1:154912600-154915200	Enhancers	Gastric	stomach
38	chr1:154912600-154915200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:154912600-154915400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:154912600-154915600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:154912600-154915600	Enhancers	Brain Anterior Caudate	brain
42	chr1:154912600-154915600	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:154912600-154916000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr1:154912600-154916000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr1:154912600-154916600	Enhancers	Primary T cells from cord blood	blood
46	chr1:154912600-154916600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:154912600-154916600	Enhancers	Spleen	Spleen
48	chr1:154912600-154917000	Flanking Active TSS	GM12878-XiMat	blood
49	chr1:154912600-154917600	Enhancers	Brain Substantia Nigra	brain
50	chr1:154912600-154917800	Enhancers	Fetal Lung	lung

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