Variant report

Variant	rs28719168
Chromosome Location	chr5:12174197-12174198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10073092	0.89[EUR][1000 genomes]
rs12521605	0.83[EUR][1000 genomes]
rs13155022	0.89[EUR][1000 genomes]
rs13156281	0.89[EUR][1000 genomes]
rs13158721	0.83[EUR][1000 genomes]
rs13166948	0.83[EUR][1000 genomes]
rs13171780	0.83[EUR][1000 genomes]
rs13176562	0.83[EUR][1000 genomes]
rs13179328	0.83[EUR][1000 genomes]
rs13182154	0.83[EUR][1000 genomes]
rs13184782	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13187819	0.89[EUR][1000 genomes]
rs17789360	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191103	1.00[ASN][1000 genomes]
rs34149685	0.83[EUR][1000 genomes]
rs34207295	0.94[EUR][1000 genomes]
rs34230260	0.83[EUR][1000 genomes]
rs34296320	0.83[EUR][1000 genomes]
rs34417774	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34732472	0.89[EUR][1000 genomes]
rs34853457	0.89[EUR][1000 genomes]
rs35122577	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35158283	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35823289	0.84[EUR][1000 genomes]
rs56037496	0.89[EUR][1000 genomes]
rs66810576	0.89[EUR][1000 genomes]
rs67049016	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67287532	0.84[EUR][1000 genomes]
rs71601409	0.89[EUR][1000 genomes]
rs71601413	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv597155	chr5:12022698-12251916	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv2757983	chr5:12034304-12208440	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv2759323	chr5:12034304-12208440	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv427710	chr5:12034304-12208440	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1016098	chr5:12042741-12310988	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1025096	chr5:12049731-12778382	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv537660	chr5:12049731-12778382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv470989	chr5:12110214-12288541	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv880440	chr5:12128980-12288541	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv880704	chr5:12132401-12338203	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv881603	chr5:12153033-12288541	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv880364	chr5:12153033-12330841	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1020339	chr5:12162849-12218020	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv537662	chr5:12162849-12218020	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1024189	chr5:12162849-12258950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv537663	chr5:12162849-12258950	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv522521	chr5:12163379-12174985	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12172400-12176800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:12172600-12174400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:12173600-12175000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr5:12173600-12175600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:12173600-12176600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:12173600-12177000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:12174000-12174200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:12174000-12175600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:12174000-12176400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:12174000-12177000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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