Variant report

Variant	rs72751613
Chromosome Location	chr15:82556290-82556291
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	MAZ	chr15:82555784-82556327	HepG2	liver:	n/a	n/a
2	FOXA2	chr15:82554749-82556595	HepG2	liver:	n/a	chr15:82556214-82556226
3	FOXA1	chr15:82555527-82556299	HepG2	liver:	n/a	chr15:82555907-82555922 chr15:82556214-82556226

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:82556066..82557698-chr15:82564817..82567206,2	MCF-7	breast:

Variant related genes	Relation type
EFTUD1	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs55769553	0.83[AMR][1000 genomes]
rs55770061	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55787821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55859328	1.00[AMR][1000 genomes]
rs55889202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55898630	0.83[AMR][1000 genomes]
rs55899409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55933319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55994913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56029996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56050367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56126531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56261932	0.83[AMR][1000 genomes]
rs72749523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751612	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72751663	0.83[AMR][1000 genomes]
rs72751664	0.83[AMR][1000 genomes]
rs72751669	0.83[AMR][1000 genomes]
rs72751670	0.83[AMR][1000 genomes]
rs72751671	0.83[AMR][1000 genomes]
rs72751674	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457212	chr15:82454283-82573255	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv570243	chr15:82454283-82573255	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv457213	chr15:82456227-82573255	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv570244	chr15:82456227-82573255	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv570245	chr15:82456227-82591082	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1041040	chr15:82465124-82606410	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1801737	chr15:82468455-82589044	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv570246	chr15:82485707-82581264	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1041506	chr15:82496164-82581427	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1798145	chr15:82506790-82581264	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv904440	chr15:82524544-82591082	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv904441	chr15:82532963-82580736	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv904442	chr15:82540174-82571046	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1054025	chr15:82540486-83058214	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv904443	chr15:82553472-82571780	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82552400-82556800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:82555400-82565400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:82555800-82556800	Enhancers	Liver	Liver
4	chr15:82555800-82558800	Weak transcription	Primary T cells from cord blood	blood
5	chr15:82555800-82558800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr15:82555800-82559400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:82555800-82560200	Weak transcription	Thymus	Thymus
8	chr15:82555800-82561200	Weak transcription	Fetal Thymus	thymus
9	chr15:82555800-82566400	Weak transcription	Ovary	ovary
10	chr15:82556000-82556400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:82556000-82556800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr15:82556000-82557000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:82556000-82558200	Weak transcription	Fetal Stomach	stomach
14	chr15:82556000-82558400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:82556000-82558400	Weak transcription	Primary B cells from cord blood	blood
16	chr15:82556000-82558400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr15:82556000-82558600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:82556000-82558600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:82556000-82558600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:82556000-82558600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:82556000-82558600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:82556000-82558600	Weak transcription	Fetal Heart	heart
23	chr15:82556000-82558600	Weak transcription	GM12878-XiMat	blood
24	chr15:82556000-82558600	Weak transcription	HUVEC	blood vessel
25	chr15:82556000-82558800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:82556000-82558800	Weak transcription	Stomach Mucosa	stomach
27	chr15:82556000-82558800	Weak transcription	NHEK	skin
28	chr15:82556000-82559400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:82556000-82559400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:82556000-82559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:82556000-82559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:82556000-82559600	Weak transcription	HMEC	breast
33	chr15:82556000-82560800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:82556000-82561000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:82556000-82561200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:82556000-82561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:82556000-82561600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:82556000-82563200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:82556000-82566400	Weak transcription	Fetal Lung	lung
40	chr15:82556200-82556400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr15:82556200-82556400	Enhancers	HepG2	liver
42	chr15:82556200-82556600	Enhancers	K562	blood
43	chr15:82556200-82558600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr15:82556200-82558600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:82556200-82558600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:82556200-82560000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:82556200-82560600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:82556200-82567400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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