Variant report

Variant	rs72618657
Chromosome Location	chr2:53744824-53744825
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10165742	0.80[ASN][1000 genomes]
rs10183446	0.80[ASN][1000 genomes]
rs10204330	0.80[ASN][1000 genomes]
rs10204468	0.80[ASN][1000 genomes]
rs10204470	0.80[ASN][1000 genomes]
rs10206558	0.82[ASN][1000 genomes]
rs10496025	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12463516	0.86[ASN][1000 genomes]
rs13394011	0.84[ASN][1000 genomes]
rs13394197	0.81[ASN][1000 genomes]
rs13394939	0.81[ASN][1000 genomes]
rs13416219	0.81[ASN][1000 genomes]
rs13420695	0.81[ASN][1000 genomes]
rs13427989	0.82[ASN][1000 genomes]
rs1521935	0.84[ASN][1000 genomes]
rs1602986	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17189463	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17189470	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17268033	0.80[ASN][1000 genomes]
rs17516503	0.89[ASN][1000 genomes]
rs2172642	0.95[ASN][1000 genomes]
rs4671411	0.83[ASN][1000 genomes]
rs4672456	0.80[ASN][1000 genomes]
rs4672481	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545352	0.84[ASN][1000 genomes]
rs6743847	0.82[ASN][1000 genomes]
rs72618655	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72618656	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72618658	0.91[ASN][1000 genomes]
rs7559727	0.80[ASN][1000 genomes]
rs7586356	0.80[ASN][1000 genomes]
rs7586411	0.80[ASN][1000 genomes]
rs7586468	0.80[ASN][1000 genomes]
rs7586738	0.80[ASN][1000 genomes]
rs7599710	0.83[ASN][1000 genomes]
rs7604056	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv999571	chr2:53690538-53775723	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1012754	chr2:53690538-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv457873	chr2:53701324-53785037	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv582009	chr2:53701324-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv457886	chr2:53722595-53835083	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv582010	chr2:53722595-53835083	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1812833	chr2:53744110-53765801	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53737400-53747200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:53740000-53747400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:53742400-53747600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:53743400-53747800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:53743600-53747400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:53743800-53746600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:53743800-53747000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:53744200-53745000	Enhancers	Brain Angular Gyrus	brain
9	chr2:53744200-53745000	Enhancers	Fetal Brain Female	brain
10	chr2:53744200-53745200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:53744200-53745400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:53744200-53745600	Enhancers	Fetal Brain Male	brain
13	chr2:53744400-53747000	Weak transcription	Brain Substantia Nigra	brain
14	chr2:53744800-53745200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:53744800-53745400	Enhancers	Brain Inferior Temporal Lobe	brain

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