Variant report

Variant	rs28447119
Chromosome Location	chr7:5250473-5250474
allele	A/G
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	chr7:5250404-5250886	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5247293..5249446-chr7:5249738..5252725,2	K562	blood:
2	chr7:5229839..5231693-chr7:5248834..5250794,2	MCF-7	breast:
3	chr7:5237141..5239553-chr7:5249039..5250574,2	K562	blood:

Variant related genes	Relation type
WIPI2	TF binding region
ENSG00000157954	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10225429	1.00[AMR][1000 genomes]
rs10225919	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242373	1.00[AMR][1000 genomes]
rs10243571	1.00[AMR][1000 genomes]
rs10245417	1.00[AMR][1000 genomes]
rs10249285	1.00[AMR][1000 genomes]
rs10252983	1.00[AMR][1000 genomes]
rs10253380	1.00[AMR][1000 genomes]
rs10270945	1.00[AMR][1000 genomes]
rs10273014	1.00[AMR][1000 genomes]
rs10279924	1.00[AMR][1000 genomes]
rs28411908	1.00[AMR][1000 genomes]
rs28450156	1.00[AMR][1000 genomes]
rs28461705	1.00[AMR][1000 genomes]
rs28545115	1.00[AMR][1000 genomes]
rs6979367	1.00[AMR][1000 genomes]
rs73316646	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
3	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
4	nsv1031007	chr7:5101766-5262695	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv916396	chr7:5128917-5370805	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
7	nsv1015639	chr7:5209510-5255399	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv887390	chr7:5224407-5411296	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
10	nsv830889	chr7:5248157-5427465	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5231200-5254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:5231400-5253800	Weak transcription	Fetal Kidney	kidney
3	chr7:5231400-5279800	Weak transcription	Fetal Brain Male	brain
4	chr7:5231600-5252600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:5231800-5254200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:5231800-5273400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:5232000-5257200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:5232200-5256600	Weak transcription	Small Intestine	intestine
9	chr7:5232400-5256200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:5232600-5254000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:5233000-5255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:5234000-5274800	Weak transcription	Stomach Mucosa	stomach
13	chr7:5237400-5257400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr7:5237400-5258200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:5237400-5272600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:5237400-5273400	Strong transcription	Dnd41	blood
17	chr7:5239000-5267800	Strong transcription	Fetal Intestine Large	intestine
18	chr7:5239000-5270800	Strong transcription	Placenta	Placenta
19	chr7:5240200-5251400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:5240800-5254000	Weak transcription	Colonic Mucosa	Colon
21	chr7:5241000-5265600	Weak transcription	Psoas Muscle	Psoas
22	chr7:5242800-5255200	Weak transcription	Fetal Heart	heart
23	chr7:5242800-5256400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:5243600-5253800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:5245200-5254000	Weak transcription	Brain Germinal Matrix	brain
26	chr7:5245400-5252400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:5246400-5271400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:5247800-5270000	Strong transcription	Primary T cells from cord blood	blood
29	chr7:5248000-5257200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:5248400-5257000	Strong transcription	GM12878-XiMat	blood
31	chr7:5248400-5273200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:5248600-5254000	Strong transcription	Fetal Thymus	thymus
33	chr7:5248800-5251000	Strong transcription	HUVEC	blood vessel
34	chr7:5248800-5257600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:5248800-5257800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr7:5248800-5259000	Strong transcription	Fetal Lung	lung
37	chr7:5248800-5267800	Strong transcription	Thymus	Thymus
38	chr7:5248800-5270600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:5248800-5272000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr7:5248800-5272200	Strong transcription	Fetal Muscle Leg	muscle
41	chr7:5248800-5272400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:5249000-5250800	Strong transcription	HSMMtube	muscle
43	chr7:5249000-5251400	Strong transcription	HSMM	muscle
44	chr7:5249000-5252600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:5249000-5257200	Strong transcription	K562	blood
46	chr7:5249000-5257600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:5249000-5258000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:5249000-5259000	Strong transcription	HepG2	liver
49	chr7:5249000-5259600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:5249000-5259800	Strong transcription	Brain Inferior Temporal Lobe	brain

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