Variant report

Variant	rs58807320
Chromosome Location	chr7:86976461-86976462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:86976349-86976466	ProgFib	skin:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86973803..86976722-chr7:86989973..86992500,2	MCF-7	breast:
2	chr6:133135224..133137195-chr7:86974442..86977103,2	MCF-7	breast:
3	chr7:86975683..86979133-chr7:86998310..87000845,3	MCF-7	breast:
4	chr7:86846140..86849007-chr7:86974665..86976624,2	MCF-7	breast:
5	chr7:86974685..86977736-chr7:87002429..87005336,3	MCF-7	breast:
6	chr20:45983193..45985158-chr7:86975242..86977827,2	MCF-7	breast:
7	chr7:86973027..86976593-chr7:87504303..87507795,3	K562	blood:

No data

Variant related genes	Relation type
TP53TG1	TF binding region
ENSG00000006634	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000005469	Chromatin interaction
ENSG00000135185	Chromatin interaction
ENSG00000075303	Chromatin interaction
ENSG00000200397	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10499902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11971666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11973839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11973893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11975323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11975766	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11976398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11977095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11977186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11977237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11983904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11984117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35186400	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36101759	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57585161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59567057	0.85[EUR][1000 genomes]
rs6943391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6943685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6943711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6943724	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6944261	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6944268	1.00[EUR][1000 genomes]
rs6974007	1.00[EUR][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	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1029486	chr7:86856387-87121976	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv539004	chr7:86856387-87121976	Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1814401	chr7:86857553-87034167	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv1826474	chr7:86857553-87034167	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv428177	chr7:86857553-87034167	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv1024376	chr7:86905796-87129346	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active 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	29 gene(s)	inside rSNPs	diseases
14	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv888678	chr7:86932085-87101407	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86973800-86976800	Active TSS	Aorta	Aorta
2	chr7:86975000-86976600	Flanking Active TSS	Liver	Liver
3	chr7:86975400-86982400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:86975600-86976600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr7:86975600-86977800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:86975600-86977800	Weak transcription	HUVEC	blood vessel
7	chr7:86975600-86978600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:86975600-86978600	Weak transcription	Left Ventricle	heart
9	chr7:86975600-86979000	Weak transcription	Ovary	ovary
10	chr7:86975600-86979000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:86975600-86979600	Weak transcription	Right Ventricle	heart
12	chr7:86975600-86979600	Weak transcription	Thymus	Thymus
13	chr7:86975600-86979800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:86975600-86981000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:86975600-86982400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:86975600-86982400	Weak transcription	Lung	lung
17	chr7:86975600-86982800	Weak transcription	Esophagus	oesophagus
18	chr7:86975600-86983000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:86975600-87025800	Weak transcription	Gastric	stomach
20	chr7:86975600-87029800	Weak transcription	Psoas Muscle	Psoas
21	chr7:86975800-86976600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:86975800-86976600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr7:86975800-86976600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr7:86975800-86976600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:86975800-86976600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:86975800-86976600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:86975800-86976600	Enhancers	Brain Angular Gyrus	brain
28	chr7:86975800-86976600	Enhancers	Brain Anterior Caudate	brain
29	chr7:86975800-86976600	Enhancers	Brain Cingulate Gyrus	brain
30	chr7:86975800-86976600	Enhancers	Fetal Kidney	kidney
31	chr7:86975800-86976600	Enhancers	NHEK	skin
32	chr7:86975800-86976800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr7:86975800-86977000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:86975800-86977400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:86975800-86977400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:86975800-86977400	Active TSS	Duodenum Mucosa	Duodenum
37	chr7:86975800-86977400	Enhancers	HepG2	liver
38	chr7:86975800-86977600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:86975800-86977800	Weak transcription	Fetal Lung	lung
40	chr7:86975800-86978000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:86975800-86978000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:86975800-86978000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:86975800-86978000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:86975800-86978200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:86975800-86978200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:86975800-86978400	Weak transcription	NH-A	brain
47	chr7:86975800-86978600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:86975800-86978600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:86975800-86978600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:86975800-86978600	Weak transcription	Primary monocytes fromperipheralblood	blood

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