Variant report

Variant	rs11264276
Chromosome Location	chr1:154834092-154834093
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	chr1:154829707-154834255	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154771337..154773585-chr1:154832415..154834960,2	MCF-7	breast:
2	chr1:154829274..154831457-chr1:154833879..154837058,3	K562	blood:
3	chr1:154832792..154836317-chr1:154841340..154844437,3	K562	blood:

Variant related genes	Relation type
KCNN3	TF binding region
ENSG00000143603	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10908447	0.81[AMR][1000 genomes]
rs11264281	0.82[AMR][1000 genomes]
rs12036859	0.82[AMR][1000 genomes]
rs12130132	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12144978	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1218582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2135219	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2335407	0.84[EUR][1000 genomes]
rs4845399	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4845677	0.85[EUR][1000 genomes]
rs4845695	0.88[AMR][1000 genomes]
rs58629129	0.85[AMR][1000 genomes]
rs6674853	0.81[AMR][1000 genomes]
rs6699080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72702224	0.89[AMR][1000 genomes]
rs7531728	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7544528	0.84[EUR][1000 genomes]
rs7553195	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv432964	chr1:154820067-154849590	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv432953	chr1:154820067-154855055	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11264276	PBXIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154821000-154837200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:154822600-154838000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:154824400-154834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:154827600-154839400	Enhancers	Fetal Brain Male	brain
5	chr1:154831200-154839800	Enhancers	Psoas Muscle	Psoas
6	chr1:154831400-154839400	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:154831600-154835200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:154831800-154835800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr1:154831800-154839400	Enhancers	Fetal Thymus	thymus
10	chr1:154832000-154834400	Enhancers	Thymus	Thymus
11	chr1:154832000-154834800	Enhancers	Primary B cells from cord blood	blood
12	chr1:154832000-154837000	Enhancers	HSMM	muscle
13	chr1:154832200-154834200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:154832200-154836600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:154832400-154834600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:154832400-154840000	Enhancers	K562	blood
17	chr1:154832800-154834800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:154832800-154835400	Enhancers	Fetal Brain Female	brain
19	chr1:154832800-154835800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:154832800-154836600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:154832800-154837800	Enhancers	HSMMtube	muscle
22	chr1:154833000-154834200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:154833000-154834400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:154833000-154834800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:154833000-154836600	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:154833000-154839200	Weak transcription	Right Atrium	heart
27	chr1:154833200-154834200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:154833200-154834800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:154833200-154835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:154833200-154835400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:154833200-154835400	Weak transcription	NH-A	brain
32	chr1:154833200-154838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:154833200-154839800	Weak transcription	Left Ventricle	heart
34	chr1:154833400-154834200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:154833400-154834400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:154833400-154834400	Enhancers	Spleen	Spleen
37	chr1:154833400-154834800	Enhancers	GM12878-XiMat	blood
38	chr1:154833400-154835200	Weak transcription	Right Ventricle	heart
39	chr1:154833400-154835800	Weak transcription	Brain Germinal Matrix	brain
40	chr1:154833400-154836200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:154833400-154836400	Weak transcription	Lung	lung
42	chr1:154833400-154836600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:154833400-154837200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:154833600-154834600	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr1:154833800-154834400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr1:154833800-154834600	Enhancers	Osteobl	bone
47	chr1:154833800-154835200	Enhancers	Brain Anterior Caudate	brain
48	chr1:154833800-154837400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:154834000-154834200	Genic enhancers	Fetal Stomach	stomach
50	chr1:154834000-154834400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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