Variant report

Variant	rs55899538
Chromosome Location	chr2:183728634-183728635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10182016	0.86[ASN][1000 genomes]
rs10202627	0.85[ASN][1000 genomes]
rs10803961	0.99[ASN][1000 genomes]
rs10931042	0.85[ASN][1000 genomes]
rs10931044	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931045	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10931046	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10931049	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11686953	0.88[ASN][1000 genomes]
rs11900716	0.89[ASN][1000 genomes]
rs12466685	0.85[ASN][1000 genomes]
rs12469777	0.90[ASN][1000 genomes]
rs12473127	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12476544	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12476897	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12611837	0.89[ASN][1000 genomes]
rs12693326	0.81[ASN][1000 genomes]
rs12990735	0.88[ASN][1000 genomes]
rs12992123	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13015615	0.80[ASN][1000 genomes]
rs13026760	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1584734	0.98[ASN][1000 genomes]
rs2100344	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2118590	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs21714	0.94[ASN][1000 genomes]
rs2242070	0.85[ASN][1000 genomes]
rs288247	0.94[ASN][1000 genomes]
rs288248	0.94[ASN][1000 genomes]
rs288249	0.95[ASN][1000 genomes]
rs288330	0.90[ASN][1000 genomes]
rs2887227	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34528848	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409238	0.97[ASN][1000 genomes]
rs4293535	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs430350	0.98[ASN][1000 genomes]
rs4311031	0.87[ASN][1000 genomes]
rs4338928	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4581857	0.85[ASN][1000 genomes]
rs4666867	0.86[ASN][1000 genomes]
rs59146529	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433991	0.98[ASN][1000 genomes]
rs6433992	0.97[ASN][1000 genomes]
rs6433994	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs722738	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74178517	0.86[ASN][1000 genomes]
rs7560782	0.88[ASN][1000 genomes]
rs7562344	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7564919	0.86[ASN][1000 genomes]
rs7605198	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs825529	0.88[ASN][1000 genomes]
rs9973404	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS 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
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv875484	chr2:183702964-183747442	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183719600-183730800	Weak transcription	Psoas Muscle	Psoas
2	chr2:183722200-183730800	Weak transcription	Placenta	Placenta
3	chr2:183723800-183730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:183724200-183730800	Weak transcription	Right Atrium	heart
5	chr2:183726000-183730800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:183727000-183729600	Weak transcription	Fetal Stomach	stomach
7	chr2:183727200-183729000	Weak transcription	Left Ventricle	heart
8	chr2:183727200-183730800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:183727200-183731000	Weak transcription	Liver	Liver
10	chr2:183727400-183729000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:183727400-183729000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:183727800-183728800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:183727800-183730600	Weak transcription	Right Ventricle	heart
14	chr2:183727800-183730800	Weak transcription	Esophagus	oesophagus
15	chr2:183728200-183729200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:183728200-183731000	Weak transcription	Pancreas	Pancrea
17	chr2:183728200-183732400	Active TSS	Aorta	Aorta
18	chr2:183728600-183729200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:183728600-183729200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:183728600-183729200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:183728600-183729200	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr2:183728600-183730400	Enhancers	Colon Smooth Muscle	Colon

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