Variant report

Variant	rs4724651
Chromosome Location	chr7:5423790-5423791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5423295..5425755-chr7:5463506..5465476,2	K562	blood:
2	chr7:5422471..5424795-chr7:5463904..5465499,3	K562	blood:
3	chr7:5422026..5424768-chr7:5491088..5492724,2	K562	blood:
4	chr7:5420196..5424221-chr7:5463874..5468257,7	MCF-7	breast:
5	chr7:5418980..5420716-chr7:5420847..5423992,3	K562	blood:
6	chr7:5419562..5424276-chr7:5462194..5465605,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182095	Chromatin interaction
ENSG00000272953	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12674355	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13243421	0.97[ASN][1000 genomes]
rs4720623	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4724662	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv823996	chr7:5285503-5465988	Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv887395	chr7:5305297-5427128	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv887396	chr7:5305297-5475409	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
10	nsv887397	chr7:5315557-5450031	Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv887398	chr7:5328429-5427128	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
13	nsv887399	chr7:5366935-5427128	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
15	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
16	nsv605986	chr7:5375542-5427128	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv887400	chr7:5393243-5441337	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
19	nsv887402	chr7:5394951-5494677	Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
20	nsv887403	chr7:5399044-5450031	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
22	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
23	esv1849077	chr7:5409569-5434107	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
25	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5372200-5424200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr7:5403000-5424400	Weak transcription	Hela-S3	cervix
3	chr7:5410200-5426800	Weak transcription	HUVEC	blood vessel
4	chr7:5410200-5429200	Weak transcription	Primary B cells from cord blood	blood
5	chr7:5413600-5426800	Weak transcription	HSMMtube	muscle
6	chr7:5413600-5435000	Weak transcription	HSMM	muscle
7	chr7:5413800-5424200	Weak transcription	Small Intestine	intestine
8	chr7:5413800-5426800	Weak transcription	HMEC	breast
9	chr7:5416800-5430400	Weak transcription	GM12878-XiMat	blood
10	chr7:5417600-5426200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:5419200-5424800	Genic enhancers	Fetal Stomach	stomach
12	chr7:5420000-5424200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:5420000-5424200	Enhancers	Adipose Nuclei	Adipose
14	chr7:5420000-5424200	Enhancers	Left Ventricle	heart
15	chr7:5420200-5424800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:5420200-5424800	Genic enhancers	Gastric	stomach
17	chr7:5420400-5424000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr7:5420600-5424200	Enhancers	Esophagus	oesophagus
19	chr7:5420600-5424800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:5420600-5424800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:5421000-5424400	Enhancers	Ovary	ovary
22	chr7:5421000-5424800	Enhancers	Stomach Mucosa	stomach
23	chr7:5421200-5423800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:5421200-5424200	Weak transcription	Dnd41	blood
25	chr7:5421400-5423800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:5421400-5424000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:5421400-5424400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:5421600-5424000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:5421600-5424200	Enhancers	Liver	Liver
30	chr7:5421600-5424400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:5421800-5424400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr7:5421800-5424400	Enhancers	Colonic Mucosa	Colon
33	chr7:5421800-5424800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:5421800-5424800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:5421800-5424800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:5421800-5424800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:5421800-5424800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:5422000-5424000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:5422000-5424800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:5422000-5426800	Weak transcription	K562	blood
41	chr7:5422200-5423800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:5422200-5424000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:5422200-5424800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:5422200-5425400	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr7:5422400-5423800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:5422400-5424400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:5422400-5424800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr7:5422400-5424800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:5422400-5426800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:5422600-5423800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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