Variant report

Variant	rs12232994
Chromosome Location	chr2:76955993-76955994
allele	C/G/T
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:33)

rs_ID	r²[population]
rs10179084	0.86[EUR][1000 genomes]
rs10181947	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11682401	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12713879	0.91[ASN][1000 genomes]
rs12993991	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12994214	0.87[ASN][1000 genomes]
rs13406374	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17013121	0.86[ASN][1000 genomes]
rs2056207	0.88[EUR][1000 genomes]
rs2056208	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2056209	0.87[ASN][1000 genomes]
rs2056210	0.91[ASN][1000 genomes]
rs2056211	0.92[ASN][1000 genomes]
rs2056212	0.92[ASN][1000 genomes]
rs2056213	0.92[ASN][1000 genomes]
rs2860832	0.86[ASN][1000 genomes]
rs4853267	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55674026	0.81[EUR][1000 genomes]
rs55678874	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6726562	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6730814	0.91[ASN][1000 genomes]
rs6745704	0.87[ASN][1000 genomes]
rs6750387	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7559330	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7569282	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7584499	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7585902	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7595233	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs969933	0.86[ASN][1000 genomes]
rs969934	0.86[ASN][1000 genomes]
rs971121	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs973370	0.91[ASN][1000 genomes]
rs973371	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv582235	chr2:76881210-76997763	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1003325	chr2:76914457-76957491	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
3	nsv1002481	chr2:76919605-76957491	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	nsv1013202	chr2:76928121-76956494	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	nsv999909	chr2:76928121-76957491	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
6	nsv874318	chr2:76929095-76956302	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv582241	chr2:76935514-76956302	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv1012147	chr2:76936019-76957491	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv2762679	chr2:76936031-76957088	Weak transcription Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
10	nsv515527	chr2:76939575-76956302	Weak transcription Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
11	nsv582245	chr2:76939575-76956302	Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
12	nsv582249	chr2:76941049-76956302	Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
13	nsv874319	chr2:76949101-76979415	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76955600-76956000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:76955600-76956200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:76955800-76956200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:76955800-76956200	Active TSS	HUES64 Cell Line	embryonic stem cell

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