Variant report

Variant	rs7152740
Chromosome Location	chr14:81409068-81409069
allele	G/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	E2F4	chr14:81407138-81409104	MCF10A-Er-Src	breast:	n/a	chr14:81408116-81408126
2	SPI1	chr14:81408772-81409097	HL-60	blood:	n/a	n/a
3	HCFC1	chr14:81407354-81409090	Hela-S3	cervix:	n/a	n/a
4	SPI1	chr14:81408530-81409099	GM12878	blood:	n/a	n/a
5	SPI1	chr14:81408621-81409125	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81401790..81404001-chr14:81408260..81409826,2	K562	blood:

Variant related genes	Relation type
CEP128	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10129361	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10129919	0.81[YRI][hapmap]
rs10130150	1.00[MEX][hapmap]
rs10130613	0.83[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs10130687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130858	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130908	0.87[YRI][hapmap]
rs10133039	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs10133213	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133246	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134049	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134286	0.92[YRI][hapmap]
rs10137290	0.88[YRI][hapmap]
rs10137669	0.91[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs10139039	0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139628	0.83[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap]
rs10141192	0.83[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs10142758	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143757	1.00[AMR][1000 genomes]
rs10144178	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144828	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146123	0.92[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148517	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149425	1.00[MEX][hapmap];0.85[YRI][hapmap]
rs10149433	0.88[YRI][hapmap]
rs10150391	0.92[ASW][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs10151410	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs10151557	0.88[AFR][1000 genomes]
rs10438029	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11844105	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11844724	0.88[YRI][hapmap];0.90[AMR][1000 genomes]
rs11845100	0.88[YRI][hapmap]
rs11845556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11845772	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847064	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848413	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11849246	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs11850467	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11851465	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs11851697	0.83[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12323870	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12587252	1.00[MEX][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes]
rs17111059	0.88[YRI][hapmap]
rs17111220	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17111229	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1863767	0.84[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2195102	0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28510159	1.00[AMR][1000 genomes]
rs28576038	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28609268	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28631251	1.00[AMR][1000 genomes]
rs28771783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28811052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28856091	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34336276	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34529456	1.00[AMR][1000 genomes]
rs34929621	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55806640	0.81[AFR][1000 genomes]
rs55908787	0.81[AFR][1000 genomes]
rs55956216	0.81[AMR][1000 genomes]
rs56835406	0.81[AFR][1000 genomes]
rs60459982	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60831956	1.00[AMR][1000 genomes]
rs7142436	0.81[AFR][1000 genomes]
rs7146496	1.00[ASW][hapmap];0.97[LWK][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7152900	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153324	1.00[ASW][hapmap];0.97[LWK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153585	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7154345	0.92[YRI][hapmap]
rs7159966	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74064586	0.81[AFR][1000 genomes]
rs74064589	0.81[AFR][1000 genomes]
rs74064754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066925	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010968	0.91[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8015542	0.91[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8019256	0.83[LWK][hapmap];0.88[YRI][hapmap]
rs9323695	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805948	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81408200-81409200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr14:81408200-81409200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:81408400-81409200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:81408400-81409600	Flanking Active TSS	Dnd41	blood
5	chr14:81408600-81409200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:81408600-81409200	Enhancers	Primary B cells from peripheral blood	blood
7	chr14:81408600-81409200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr14:81408600-81409200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:81408600-81409200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr14:81408600-81409200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:81408600-81409200	Enhancers	Placenta	Placenta
12	chr14:81408800-81409200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:81408800-81409200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr14:81408800-81409200	Enhancers	Primary hematopoietic stem cells	blood
15	chr14:81408800-81409200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:81408800-81409200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:81408800-81409200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:81408800-81409200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:81408800-81409200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:81408800-81409200	Enhancers	Osteobl	bone
21	chr14:81408800-81409400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr14:81408800-81410600	Enhancers	NHDF-Ad	bronchial
23	chr14:81408800-81411800	Weak transcription	Fetal Thymus	thymus
24	chr14:81408800-81412400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:81408800-81414200	Weak transcription	Liver	Liver
26	chr14:81408800-81421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:81409000-81409200	Enhancers	Primary T cells from cord blood	blood
28	chr14:81409000-81409200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:81409000-81409200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:81409000-81409200	Active TSS	Brain Anterior Caudate	brain
31	chr14:81409000-81409200	Enhancers	GM12878-XiMat	blood
32	chr14:81409000-81409200	Flanking Active TSS	HepG2	liver
33	chr14:81409000-81409200	Enhancers	HMEC	breast
34	chr14:81409000-81409200	Flanking Active TSS	K562	blood
35	chr14:81409000-81409200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr14:81409000-81409200	Enhancers	NHEK	skin
37	chr14:81409000-81409400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:81409000-81409400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:81409000-81409800	Weak transcription	HSMM	muscle
40	chr14:81409000-81410000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:81409000-81414000	Weak transcription	Thymus	Thymus

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