Variant report

Variant	rs1446712
Chromosome Location	chr2:77203168-77203169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10183619	0.92[EUR][1000 genomes]
rs10183642	0.92[EUR][1000 genomes]
rs10186912	0.92[EUR][1000 genomes]
rs10187466	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10190179	0.86[EUR][1000 genomes]
rs10190198	0.86[EUR][1000 genomes]
rs10190443	0.85[EUR][1000 genomes]
rs10192262	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10196630	0.92[EUR][1000 genomes]
rs10196749	0.91[EUR][1000 genomes]
rs10196758	0.92[EUR][1000 genomes]
rs10196801	0.92[EUR][1000 genomes]
rs10196895	0.92[EUR][1000 genomes]
rs10196939	0.92[EUR][1000 genomes]
rs10201530	0.83[EUR][1000 genomes]
rs11126576	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11896560	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11896587	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12621674	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12987907	0.85[EUR][1000 genomes]
rs12992834	0.85[EUR][1000 genomes]
rs13013784	0.85[EUR][1000 genomes]
rs13427438	0.92[EUR][1000 genomes]
rs13427514	0.92[EUR][1000 genomes]
rs1345136	0.85[EUR][1000 genomes]
rs1348831	0.90[EUR][1000 genomes]
rs1374388	0.86[EUR][1000 genomes]
rs1374389	0.86[EUR][1000 genomes]
rs1374390	0.86[EUR][1000 genomes]
rs1446693	0.82[EUR][1000 genomes]
rs1446695	0.83[EUR][1000 genomes]
rs1446697	0.86[EUR][1000 genomes]
rs1446698	0.87[EUR][1000 genomes]
rs1446701	0.89[EUR][1000 genomes]
rs1446702	0.86[EUR][1000 genomes]
rs1446703	0.88[EUR][1000 genomes]
rs1446704	0.86[EUR][1000 genomes]
rs1446705	0.89[EUR][1000 genomes]
rs1446707	0.90[EUR][1000 genomes]
rs1446710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470504	0.92[EUR][1000 genomes]
rs1470505	0.92[EUR][1000 genomes]
rs1470506	0.92[EUR][1000 genomes]
rs1470507	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470508	0.92[EUR][1000 genomes]
rs1584235	0.92[EUR][1000 genomes]
rs1584236	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1584237	0.92[EUR][1000 genomes]
rs17013592	0.86[EUR][1000 genomes]
rs17013595	0.87[EUR][1000 genomes]
rs1838880	0.91[EUR][1000 genomes]
rs1838881	0.91[EUR][1000 genomes]
rs2028913	0.88[EUR][1000 genomes]
rs2121409	0.86[EUR][1000 genomes]
rs2121410	0.92[EUR][1000 genomes]
rs2121411	0.92[EUR][1000 genomes]
rs2197603	0.87[EUR][1000 genomes]
rs2860937	0.92[EUR][1000 genomes]
rs2860938	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2901812	0.90[EUR][1000 genomes]
rs34372910	0.93[EUR][1000 genomes]
rs34632326	0.87[EUR][1000 genomes]
rs35038238	0.85[EUR][1000 genomes]
rs35659577	0.85[EUR][1000 genomes]
rs4143794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4143796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4853283	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4853286	0.87[EUR][1000 genomes]
rs4853287	0.87[EUR][1000 genomes]
rs4853288	0.87[EUR][1000 genomes]
rs4853289	0.87[EUR][1000 genomes]
rs4853291	0.86[EUR][1000 genomes]
rs56314043	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6547104	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6547110	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6547114	0.90[EUR][1000 genomes]
rs6547115	0.84[EUR][1000 genomes]
rs6547116	0.81[EUR][1000 genomes]
rs6547117	0.83[EUR][1000 genomes]
rs6547118	0.82[EUR][1000 genomes]
rs6718391	0.87[EUR][1000 genomes]
rs6718440	0.85[EUR][1000 genomes]
rs6719689	0.81[ASN][1000 genomes]
rs6732462	0.85[EUR][1000 genomes]
rs6739222	0.88[EUR][1000 genomes]
rs6743454	0.87[EUR][1000 genomes]
rs727000	0.84[EUR][1000 genomes]
rs7561361	0.93[EUR][1000 genomes]
rs7563917	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7569624	0.81[EUR][1000 genomes]
rs7591186	0.85[EUR][1000 genomes]
rs7597923	0.89[EUR][1000 genomes]
rs7601256	0.86[EUR][1000 genomes]
rs7604936	0.85[EUR][1000 genomes]
rs7605187	0.89[EUR][1000 genomes]
rs765572	0.88[EUR][1000 genomes]
rs9309508	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9309509	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874322	chr2:77031247-77209750	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv2752990	chr2:77038541-77217310	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv874327	chr2:77085752-77209750	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv874329	chr2:77096124-77209750	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv874330	chr2:77103719-77209750	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2756931	chr2:77185856-77209051	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2759066	chr2:77185856-77209051	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3382201	chr2:77199044-77203242	Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv2762264	chr2:77202107-77206452	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77202600-77204200	Enhancers	HUVEC	blood vessel
2	chr2:77203000-77206600	Enhancers	Fetal Lung	lung

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