Variant report

Variant	rs6716886
Chromosome Location	chr2:209948960-209948961
allele	A/C
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:31)

rs_ID	r²[population]
rs10208451	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1023760	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1030959	0.91[ASN][1000 genomes]
rs1160393	0.90[ASN][1000 genomes]
rs12466506	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12694151	0.92[ASN][1000 genomes]
rs13034928	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13383160	0.84[ASN][1000 genomes]
rs13383583	0.90[ASN][1000 genomes]
rs1347952	0.91[ASN][1000 genomes]
rs1371438	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1439734	0.91[ASN][1000 genomes]
rs1439737	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1439744	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1561529	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1561531	0.91[ASN][1000 genomes]
rs1583759	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2364823	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2364828	0.91[ASN][1000 genomes]
rs2364829	0.92[ASN][1000 genomes]
rs2886186	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2886188	0.91[ASN][1000 genomes]
rs35022684	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3910600	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4673442	0.81[ASN][1000 genomes]
rs5017675	0.85[ASN][1000 genomes]
rs6740556	0.83[ASN][1000 genomes]
rs6745564	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7420275	0.81[ASN][1000 genomes]
rs7421579	0.83[ASN][1000 genomes]
rs7580902	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012184	chr2:209755847-210049331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536131	chr2:209755847-210049331	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009924	chr2:209805661-210042572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002578	chr2:209836205-210026339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv536132	chr2:209836205-210026339	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1002788	chr2:209913805-209950811	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv3139	chr2:209915318-209964719	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv508198	chr2:209935777-209950086	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
10	esv2592840	chr2:209941134-209949361	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
11	esv2627203	chr2:209942069-209949323	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
12	esv3410551	chr2:209942257-209949755	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a
13	esv3409545	chr2:209942377-209949352	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
14	esv3428660	chr2:209942676-209949072	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
15	nsv436264	chr2:209942685-209949026	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209945400-209949000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:209945400-209949200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:209947800-209949200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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