Variant report

Variant	rs1608511
Chromosome Location	chr7:79349020-79349021
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10240404	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10251224	0.91[EUR][1000 genomes]
rs10252802	0.89[EUR][1000 genomes]
rs1523834	0.91[EUR][1000 genomes]
rs1523842	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1523843	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1589726	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1880167	0.89[EUR][1000 genomes]
rs1916732	0.89[EUR][1000 genomes]
rs1916740	0.89[EUR][1000 genomes]
rs1922729	0.83[EUR][1000 genomes]
rs1922734	0.89[EUR][1000 genomes]
rs2222904	0.89[EUR][1000 genomes]
rs2244728	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244821	0.89[EUR][1000 genomes]
rs2264651	0.91[EUR][1000 genomes]
rs2366248	0.89[EUR][1000 genomes]
rs2465512	0.91[EUR][1000 genomes]
rs2465517	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2689777	0.91[EUR][1000 genomes]
rs2689779	0.91[EUR][1000 genomes]
rs2689780	0.91[EUR][1000 genomes]
rs2689782	0.91[EUR][1000 genomes]
rs2689797	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2689802	0.91[EUR][1000 genomes]
rs2689804	0.91[EUR][1000 genomes]
rs2689805	0.91[EUR][1000 genomes]
rs2689806	0.89[EUR][1000 genomes]
rs2689810	0.89[EUR][1000 genomes]
rs2689811	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2707858	0.86[EUR][1000 genomes]
rs2707886	0.80[EUR][1000 genomes]
rs2707897	0.91[EUR][1000 genomes]
rs2707915	0.91[EUR][1000 genomes]
rs2707926	0.89[EUR][1000 genomes]
rs2714641	0.89[EUR][1000 genomes]
rs2714642	0.91[EUR][1000 genomes]
rs2714652	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2714655	0.80[EUR][1000 genomes]
rs2714662	0.83[EUR][1000 genomes]
rs2714680	0.86[EUR][1000 genomes]
rs2714701	0.91[EUR][1000 genomes]
rs2714702	0.91[EUR][1000 genomes]
rs4288313	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6466768	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6963713	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777781	0.86[EUR][1000 genomes]
rs7780715	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794240	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940305	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940306	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940307	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940308	0.90[AMR][1000 genomes];0.95[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	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	nsv607672	chr7:79319930-79367667	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv607673	chr7:79319930-79368072	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv607674	chr7:79319930-79394881	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	esv3351717	chr7:79344350-79371408	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79348600-79349200	Enhancers	Left Ventricle	heart
2	chr7:79348600-79351000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:79348800-79349200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr7:79348800-79353800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:79349000-79349200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:79349000-79349200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:79349000-79349400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:79349000-79349400	Enhancers	Brain Germinal Matrix	brain
9	chr7:79349000-79349600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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