Variant report

Variant	rs60390345
Chromosome Location	chr7:79398707-79398708
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:93)

rs_ID	r²[population]
rs11972803	0.84[AFR][1000 genomes]
rs11973409	0.89[AFR][1000 genomes]
rs11977110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11979651	0.86[AFR][1000 genomes]
rs1293091	0.86[ASN][1000 genomes]
rs1293109	0.86[ASN][1000 genomes]
rs1293110	0.85[ASN][1000 genomes]
rs1293111	0.84[ASN][1000 genomes]
rs1293112	0.86[ASN][1000 genomes]
rs1293113	0.86[ASN][1000 genomes]
rs1293115	0.86[ASN][1000 genomes]
rs1297413	0.86[ASN][1000 genomes]
rs1523834	0.92[ASN][1000 genomes]
rs1523842	0.80[ASN][1000 genomes]
rs1523843	0.83[ASN][1000 genomes]
rs16886625	0.97[ASN][1000 genomes]
rs17147916	0.97[ASN][1000 genomes]
rs17152857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17152858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17152859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17152860	1.00[ASN][1000 genomes]
rs17152864	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17152873	0.86[AFR][1000 genomes]
rs17152877	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17152888	1.00[ASN][1000 genomes]
rs17152926	0.92[ASN][1000 genomes]
rs17152935	0.84[AFR][1000 genomes]
rs17152944	0.89[ASN][1000 genomes]
rs1851752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1880167	0.92[ASN][1000 genomes]
rs1916732	0.95[ASN][1000 genomes]
rs1916740	0.95[ASN][1000 genomes]
rs1922725	0.86[ASN][1000 genomes]
rs1922726	0.86[ASN][1000 genomes]
rs1922728	0.85[ASN][1000 genomes]
rs1922734	0.95[ASN][1000 genomes]
rs1985747	0.81[ASN][1000 genomes]
rs2023897	0.81[AFR][1000 genomes]
rs2023898	0.84[AFR][1000 genomes]
rs2222904	0.95[ASN][1000 genomes]
rs2246996	0.85[ASN][1000 genomes]
rs2366248	0.95[ASN][1000 genomes]
rs2465515	0.89[ASN][1000 genomes]
rs2465517	0.83[ASN][1000 genomes]
rs2689797	0.83[ASN][1000 genomes]
rs2689804	0.95[ASN][1000 genomes]
rs2689805	0.95[ASN][1000 genomes]
rs2689810	0.95[ASN][1000 genomes]
rs2689811	0.88[ASN][1000 genomes]
rs2707858	0.89[ASN][1000 genomes]
rs2707886	0.86[ASN][1000 genomes]
rs2707887	0.86[ASN][1000 genomes]
rs2707897	0.92[ASN][1000 genomes]
rs2714640	0.85[ASN][1000 genomes]
rs2714642	0.95[ASN][1000 genomes]
rs2714652	0.83[ASN][1000 genomes]
rs2714653	0.86[ASN][1000 genomes]
rs2714655	0.86[ASN][1000 genomes]
rs2714656	0.85[ASN][1000 genomes]
rs2714661	0.85[ASN][1000 genomes]
rs2714662	0.86[ASN][1000 genomes]
rs2714664	0.85[ASN][1000 genomes]
rs2714695	0.86[ASN][1000 genomes]
rs2714696	0.86[ASN][1000 genomes]
rs4288313	0.83[ASN][1000 genomes]
rs4394329	0.92[ASN][1000 genomes]
rs55772364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56193718	0.86[AFR][1000 genomes]
rs56320258	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56351881	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56855945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57226669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57325773	0.81[AFR][1000 genomes]
rs57870645	0.88[ASN][1000 genomes]
rs57942274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58192392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59149988	0.85[ASN][1000 genomes]
rs59182614	0.86[AFR][1000 genomes]
rs59329952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59636427	0.86[AFR][1000 genomes]
rs60300830	0.84[AFR][1000 genomes]
rs60870507	1.00[ASN][1000 genomes]
rs6466768	0.83[ASN][1000 genomes]
rs6976935	0.88[AFR][1000 genomes]
rs73368650	0.81[AFR][1000 genomes]
rs73381225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73381226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73383025	0.86[AFR][1000 genomes]
rs73705067	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7777781	0.89[ASN][1000 genomes]
rs7789978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7809579	0.81[AFR][1000 genomes]
rs940308	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758121	chr7:79261464-79427646	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759540	chr7:79261464-79427646	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv607670	chr7:79310586-79434743	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv464602	chr7:79315761-79402551	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv607671	chr7:79315761-79402551	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1016075	chr7:79316477-79404957	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1033114	chr7:79317818-79408713	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1020043	chr7:79320516-79401875	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1018854	chr7:79320516-79404957	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1025266	chr7:79320516-79408713	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1023653	chr7:79320516-79410073	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2829876	chr7:79355196-79483480	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv888521	chr7:79371206-79483480	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3383021	chr7:79398485-79398889	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79397800-79399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:79398600-79399000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:79398600-79399000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:79398600-79399200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:79398600-79402000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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