Variant report

Variant	rs60523677
Chromosome Location	chr2:172349011-172349012
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10177689	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10186304	0.81[EUR][1000 genomes]
rs10192493	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10195990	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10198915	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10202883	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10210332	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13386613	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13388963	0.81[EUR][1000 genomes]
rs13395084	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13396824	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13402901	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13414723	0.81[EUR][1000 genomes]
rs13420838	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28608023	0.81[EUR][1000 genomes]
rs28663293	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4566333	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58367130	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58808521	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59235233	0.81[EUR][1000 genomes]
rs59318451	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59449823	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59599047	0.81[EUR][1000 genomes]
rs6712098	0.96[ASN][1000 genomes]
rs73976149	0.81[EUR][1000 genomes]
rs73976150	0.81[EUR][1000 genomes]
rs73976153	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73976158	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73976177	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9973419	0.81[EUR][1000 genomes]
rs9973709	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer 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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172334600-172349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:172334800-172349200	Weak transcription	Esophagus	oesophagus
3	chr2:172338000-172349400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:172338400-172349800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:172339800-172350600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:172339800-172352200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:172340000-172351200	Weak transcription	Aorta	Aorta
8	chr2:172340000-172368400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:172346000-172353000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:172348400-172349600	Weak transcription	Colonic Mucosa	Colon
11	chr2:172348600-172349800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:172348600-172351000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:172348600-172355000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:172349000-172349600	Enhancers	Cortex derived primary cultured neurospheres	brain

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