Variant report

Variant	rs62454583
Chromosome Location	chr7:13985466-13985467
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10486064	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56041031	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61418435	1.00[ASN][1000 genomes]
rs62454585	0.93[EUR][1000 genomes]
rs73276824	1.00[ASN][1000 genomes]
rs73679049	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv887701	chr7:13955324-13988170	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13960200-13987400	Weak transcription	K562	blood
2	chr7:13960200-13988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:13960400-13989000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:13971400-13986400	Weak transcription	Lung	lung
5	chr7:13971400-13991600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:13971600-13989800	Weak transcription	Liver	Liver
7	chr7:13973400-13989000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:13973400-13990000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:13974200-13986000	Weak transcription	Fetal Kidney	kidney
10	chr7:13974200-13987400	Weak transcription	Fetal Heart	heart
11	chr7:13975600-13988200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:13975600-14003600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:13975600-14003600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:13975600-14013800	Weak transcription	Left Ventricle	heart
15	chr7:13978800-14004600	Weak transcription	Fetal Lung	lung
16	chr7:13979200-13988800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:13979200-13998000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:13979600-13989000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:13984200-13989800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:13984800-13987400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:13984800-13988800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:13985000-13985600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:13985000-13985800	Enhancers	NHLF	lung
24	chr7:13985000-13989800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:13985200-13985600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:13985200-13985600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:13985200-13985600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr7:13985200-13985800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:13985200-13985800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:13985200-13986000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:13985200-13986000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:13985200-13986000	Enhancers	Fetal Brain Female	brain
33	chr7:13985200-13987000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:13985200-13988000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:13985400-13985600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:13985400-13985600	Enhancers	NH-A	brain
37	chr7:13985400-13985800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:13985400-13985800	Active TSS	Brain Anterior Caudate	brain
39	chr7:13985400-13985800	Active TSS	Brain Hippocampus Middle	brain
40	chr7:13985400-13985800	Active TSS	Stomach Smooth Muscle	stomach
41	chr7:13985400-13985800	Flanking Active TSS	NHDF-Ad	bronchial
42	chr7:13985400-13986000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:13985400-13986000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr7:13985400-13986000	Enhancers	HMEC	breast
45	chr7:13985400-13986000	Enhancers	HSMMtube	muscle
46	chr7:13985400-13986200	Flanking Active TSS	Osteobl	bone
47	chr7:13985400-13986400	Enhancers	HSMM	muscle
48	chr7:13985400-13987400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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