Variant report

Variant	rs7786245
Chromosome Location	chr7:5437223-5437224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5435723..5440617-chr7:5455325..5461617,9	MCF-7	breast:
2	chr17:1619851..1620486-chr7:5436343..5437291,2	Hela-S3	cervix:
3	chr7:5437040..5441655-chr7:5451029..5454585,4	MCF-7	breast:
4	chr7:5436693..5438675-chr7:5440998..5443690,2	K562	blood:
5	chr7:5427419..5438627-chr7:5461902..5471481,26	MCF-7	breast:
6	chr7:5435671..5437370-chr7:5467545..5469862,2	K562	blood:
7	chr7:5437131..5437687-chr7:5526669..5527647,2	K562	blood:
8	chr7:5435151..5439105-chr7:5445783..5449135,4	MCF-7	breast:
9	chr2:223725565..223726094-chr7:5436470..5437421,2	Hela-S3	cervix:
10	chr7:5436430..5439066-chr7:5449815..5451560,3	K562	blood:
11	chr7:5398782..5401965-chr7:5435057..5437553,3	MCF-7	breast:
12	chr16:28835202..28835881-chr7:5436294..5437225,2	Hela-S3	cervix:
13	chr7:5430729..5434402-chr7:5435453..5437686,4	MCF-7	breast:
14	chr7:5431460..5434900-chr7:5435582..5438933,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123983	Chromatin interaction
ENSG00000167716	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000186594	Chromatin interaction
ENSG00000241269	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000188365	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10236222	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12533110	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12533163	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13223697	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13243906	0.85[EUR][1000 genomes]
rs55964767	0.95[ASN][1000 genomes]
rs56333430	0.95[ASN][1000 genomes]
rs57841892	0.83[ASN][1000 genomes]
rs66460815	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67295626	0.85[EUR][1000 genomes]
rs7786218	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789324	0.99[ASN][1000 genomes]
rs7804677	0.82[ASN][1000 genomes]
rs7805571	0.84[ASN][1000 genomes]
rs7808896	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
21	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5423600-5443600	Weak transcription	Fetal Brain Male	brain
2	chr7:5424000-5437600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:5424400-5439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:5424800-5447000	Weak transcription	Fetal Heart	heart
5	chr7:5425800-5447000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:5426000-5444200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:5427000-5446800	Weak transcription	NH-A	brain
8	chr7:5427400-5437400	Weak transcription	K562	blood
9	chr7:5427400-5445600	Weak transcription	Fetal Kidney	kidney
10	chr7:5427600-5442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:5429200-5444400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:5433200-5445200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:5433800-5437400	Weak transcription	Brain Substantia Nigra	brain
14	chr7:5434000-5446600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:5434000-5448400	Weak transcription	HUVEC	blood vessel
16	chr7:5434200-5440800	Weak transcription	Aorta	Aorta
17	chr7:5434200-5451200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:5434800-5437600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr7:5435200-5440400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:5435400-5437400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:5435400-5437600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:5435400-5443400	Weak transcription	Ovary	ovary
23	chr7:5435800-5437400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr7:5435800-5437600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr7:5436000-5437400	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr7:5436000-5437400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr7:5436000-5437400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:5436000-5437400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:5436000-5437400	Flanking Active TSS	Placenta	Placenta
30	chr7:5436000-5437600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr7:5436000-5437600	Flanking Active TSS	Colonic Mucosa	Colon
32	chr7:5436000-5437800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:5436200-5437400	Enhancers	Brain Angular Gyrus	brain
34	chr7:5436200-5437400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:5436200-5437400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr7:5436200-5437600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:5436200-5437600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr7:5436200-5437800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:5436400-5437400	Flanking Active TSS	Liver	Liver
40	chr7:5436400-5437400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr7:5436400-5437600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:5436600-5437400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:5436600-5437600	Strong transcription	Fetal Brain Female	brain
44	chr7:5436600-5437600	Enhancers	Fetal Lung	lung
45	chr7:5436600-5444000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:5436800-5437400	Enhancers	Pancreas	Pancrea
47	chr7:5436800-5437400	Enhancers	Right Atrium	heart
48	chr7:5436800-5437400	Genic enhancers	Right Ventricle	heart
49	chr7:5436800-5437600	Enhancers	Primary hematopoietic stem cells	blood
50	chr7:5436800-5437600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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