Variant report

Variant	rs13317873
Chromosome Location	chr3:150946450-150946451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150945162..150946781-chr3:151000301..151001339,9	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10212582	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11711104	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1565574	0.81[CEU][hapmap]
rs1920395	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1980143	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3846072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4269062	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4679772	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680254	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4680257	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6440730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6782715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6807308	0.85[CEU][hapmap]
rs6809692	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73021201	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7617677	0.85[CEU][hapmap]
rs7621183	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7653603	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs9815520	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9835328	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9853297	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9870740	0.85[CEU][hapmap]
rs9880339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13317873	CPB1	cis	parietal	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150928800-150952800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:150928800-150953000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:150938600-150948600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:150941600-150948000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:150942000-150946800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr3:150942200-150947000	Enhancers	Primary T cells from cord blood	blood
7	chr3:150942200-150948600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:150942800-150946600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr3:150942800-150947000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:150943000-150946800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:150943000-150947800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:150943200-150946600	Enhancers	Fetal Thymus	thymus
13	chr3:150943200-150948600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:150943600-150946600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:150943600-150946600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr3:150943800-150946600	Enhancers	NHDF-Ad	bronchial
17	chr3:150943800-150946800	Enhancers	Fetal Lung	lung
18	chr3:150943800-150946800	Enhancers	HMEC	breast
19	chr3:150943800-150947000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:150943800-150947000	Enhancers	NHLF	lung
21	chr3:150943800-150947200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:150943800-150947600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:150944000-150946600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:150944000-150946800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:150944000-150946800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:150944000-150946800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:150944000-150946800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:150944000-150947200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:150944000-150948600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:150944200-150946800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:150944200-150948200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr3:150944600-150946800	Enhancers	Primary hematopoietic stem cells	blood
33	chr3:150944600-150947000	Enhancers	Colon Smooth Muscle	Colon
34	chr3:150944800-150946600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:150944800-150946800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr3:150944800-150946800	Enhancers	Rectal Smooth Muscle	rectum
37	chr3:150945000-150946800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:150945000-150947000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:150945200-150946600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:150945200-150946800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr3:150945200-150946800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:150945200-150946800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:150945200-150946800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr3:150945200-150946800	Enhancers	Fetal Muscle Leg	muscle
45	chr3:150945200-150947000	Enhancers	Brain Angular Gyrus	brain
46	chr3:150945200-150947000	Enhancers	Brain Substantia Nigra	brain
47	chr3:150945200-150947000	Enhancers	GM12878-XiMat	blood
48	chr3:150945200-150947800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:150945200-150948200	Enhancers	Primary B cells from cord blood	blood
50	chr3:150945200-150948200	Enhancers	Primary B cells from peripheral blood	blood

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