Variant report

Variant	rs58503972
Chromosome Location	chr7:5785244-5785245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5784409..5786222-chr7:5819780..5821882,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011275	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2345938	0.85[ASN][1000 genomes]
rs28380174	0.86[ASN][1000 genomes]
rs28519438	0.85[ASN][1000 genomes]
rs34865088	0.92[ASN][1000 genomes]
rs3801012	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3807580	0.80[EUR][1000 genomes]
rs57309152	0.80[EUR][1000 genomes]
rs58364611	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60181616	0.80[EUR][1000 genomes]
rs60372872	0.85[ASN][1000 genomes]
rs60442234	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61033429	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61210914	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61260366	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6463513	0.85[ASN][1000 genomes]
rs6944627	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6951438	0.85[ASN][1000 genomes]
rs6956564	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6959871	0.92[ASN][1000 genomes]
rs6969585	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6971289	0.85[AMR][1000 genomes]
rs73339903	0.80[EUR][1000 genomes]
rs73341604	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7795879	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7806110	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7809733	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9648579	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
5	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
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
8	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	126 gene(s)	inside rSNPs	diseases
12	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
14	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
16	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
18	nsv464293	chr7:5778796-5891221	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv464294	chr7:5778796-5891221	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv605987	chr7:5778796-5891221	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr7:5753200-5794400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:5761600-5785600	Weak transcription	Fetal Brain Male	brain
3	chr7:5762000-5820400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:5762800-5786000	Weak transcription	Fetal Kidney	kidney
5	chr7:5762800-5790200	Weak transcription	Small Intestine	intestine
6	chr7:5765200-5790400	Weak transcription	Psoas Muscle	Psoas
7	chr7:5768800-5798200	Weak transcription	Colonic Mucosa	Colon
8	chr7:5769000-5785600	Weak transcription	Brain Angular Gyrus	brain
9	chr7:5769200-5790200	Weak transcription	Pancreas	Pancrea
10	chr7:5774200-5800600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:5776800-5786600	Strong transcription	Fetal Thymus	thymus
12	chr7:5779200-5785800	Weak transcription	NH-A	brain
13	chr7:5779200-5788000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:5779400-5789400	Weak transcription	HMEC	breast
15	chr7:5781000-5785600	Weak transcription	Aorta	Aorta
16	chr7:5781200-5785600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:5781200-5785600	Weak transcription	Thymus	Thymus
18	chr7:5781200-5785600	Weak transcription	HSMMtube	muscle
19	chr7:5781200-5785600	Weak transcription	NHDF-Ad	bronchial
20	chr7:5781200-5785800	Weak transcription	Lung	lung
21	chr7:5781200-5788400	Weak transcription	NHLF	lung
22	chr7:5781200-5790200	Weak transcription	Esophagus	oesophagus
23	chr7:5781200-5790600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:5781200-5792400	Weak transcription	Gastric	stomach
25	chr7:5781400-5785600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:5781400-5785600	Weak transcription	Spleen	Spleen
27	chr7:5781400-5785800	Weak transcription	Placenta	Placenta
28	chr7:5781400-5786000	Weak transcription	K562	blood
29	chr7:5781400-5789800	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:5781400-5790200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:5781400-5790400	Weak transcription	Right Ventricle	heart
32	chr7:5781400-5790600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:5781400-5799600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:5781400-5816800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:5781800-5790600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:5782400-5787800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:5782800-5786800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:5782800-5794400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:5783200-5786200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:5783200-5786800	Strong transcription	HepG2	liver
41	chr7:5783600-5785600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr7:5783600-5785600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:5783600-5785600	Weak transcription	Liver	Liver
44	chr7:5783600-5785600	Weak transcription	Brain Anterior Caudate	brain
45	chr7:5783600-5785800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:5783600-5785800	Weak transcription	Brain Germinal Matrix	brain
47	chr7:5783600-5786800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:5783600-5789600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:5783600-5789800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:5783600-5790200	Weak transcription	Ovary	ovary

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