Variant report

Variant	rs4720528
Chromosome Location	chr7:5251485-5251486
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	chr7:5251279-5253397	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:5251474-5251612	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:5251434-5251629	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5250801..5252929-chr7:5253552..5255334,2	MCF-7	breast:
2	chr7:5247293..5249446-chr7:5249738..5252725,2	K562	blood:

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

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10258544	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11761408	0.96[ASN][1000 genomes]
rs3801043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236378	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4236379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4367443	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4410810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4427074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4433032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4446651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4478482	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4526271	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4530926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4538779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724450	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4724452	0.91[ASN][1000 genomes]
rs4724461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6463310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6463311	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6463314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6463319	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6961379	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6965224	0.91[ASN][1000 genomes]
rs6970161	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6971240	0.82[EUR][1000 genomes]
rs7777063	0.91[ASN][1000 genomes]
rs7785898	1.00[ASN][1000 genomes]
rs7791896	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800465	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802384	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8180839	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][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	chr7:5240800-5254000	Weak transcription	Colonic Mucosa	Colon
20	chr7:5241000-5265600	Weak transcription	Psoas Muscle	Psoas
21	chr7:5242800-5255200	Weak transcription	Fetal Heart	heart
22	chr7:5242800-5256400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:5243600-5253800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:5245200-5254000	Weak transcription	Brain Germinal Matrix	brain
25	chr7:5245400-5252400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:5246400-5271400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:5247800-5270000	Strong transcription	Primary T cells from cord blood	blood
28	chr7:5248000-5257200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:5248400-5257000	Strong transcription	GM12878-XiMat	blood
30	chr7:5248400-5273200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:5248600-5254000	Strong transcription	Fetal Thymus	thymus
32	chr7:5248800-5257600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:5248800-5257800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr7:5248800-5259000	Strong transcription	Fetal Lung	lung
35	chr7:5248800-5267800	Strong transcription	Thymus	Thymus
36	chr7:5248800-5270600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:5248800-5272000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:5248800-5272200	Strong transcription	Fetal Muscle Leg	muscle
39	chr7:5248800-5272400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:5249000-5252600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:5249000-5257200	Strong transcription	K562	blood
42	chr7:5249000-5257600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:5249000-5258000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:5249000-5259000	Strong transcription	HepG2	liver
45	chr7:5249000-5259600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:5249000-5259800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr7:5249000-5260000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:5249000-5269200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:5249000-5269200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr7:5249000-5269600	Strong transcription	Primary T cells fromperipheralblood	blood

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