Variant report

Variant	rs581976
Chromosome Location	chr2:72670831-72670832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10181651	1.00[ASN][1000 genomes]
rs10183056	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186080	1.00[ASN][1000 genomes]
rs10190674	1.00[ASN][1000 genomes]
rs10203965	1.00[ASN][1000 genomes]
rs10206555	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460572	1.00[ASN][1000 genomes]
rs10496186	1.00[ASN][1000 genomes]
rs10865391	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10865392	1.00[ASN][1000 genomes]
rs11126370	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126371	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126372	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126373	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11126374	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11684985	1.00[ASN][1000 genomes]
rs12471136	1.00[ASN][1000 genomes]
rs12471875	1.00[ASN][1000 genomes]
rs12476130	1.00[ASN][1000 genomes]
rs12476397	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618390	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12713772	1.00[ASN][1000 genomes]
rs12713773	1.00[ASN][1000 genomes]
rs12713774	1.00[ASN][1000 genomes]
rs12998681	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13008041	1.00[ASN][1000 genomes]
rs13008258	1.00[ASN][1000 genomes]
rs13016873	1.00[ASN][1000 genomes]
rs13383535	1.00[ASN][1000 genomes]
rs13409513	1.00[ASN][1000 genomes]
rs13424607	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400580	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400582	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446888	1.00[ASN][1000 genomes]
rs1446889	1.00[ASN][1000 genomes]
rs1446890	1.00[ASN][1000 genomes]
rs1446891	1.00[ASN][1000 genomes]
rs1446892	1.00[ASN][1000 genomes]
rs1446893	1.00[ASN][1000 genomes]
rs1446895	1.00[ASN][1000 genomes]
rs1568145	1.00[ASN][1000 genomes]
rs1711838	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992799	1.00[ASN][1000 genomes]
rs2138683	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420565	1.00[ASN][1000 genomes]
rs3106879	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106880	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34127669	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34183790	0.82[EUR][1000 genomes]
rs35190321	0.80[AMR][1000 genomes]
rs4144318	1.00[ASN][1000 genomes]
rs4407272	1.00[ASN][1000 genomes]
rs4852291	1.00[ASN][1000 genomes]
rs4852293	1.00[ASN][1000 genomes]
rs4852294	1.00[ASN][1000 genomes]
rs4852872	1.00[ASN][1000 genomes]
rs4852875	1.00[ASN][1000 genomes]
rs4852876	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4852877	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4852878	1.00[ASN][1000 genomes]
rs4852880	1.00[ASN][1000 genomes]
rs583673	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585653	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585938	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587431	1.00[ASN][1000 genomes]
rs59095814	1.00[ASN][1000 genomes]
rs597799	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598547	1.00[ASN][1000 genomes]
rs602465	1.00[ASN][1000 genomes]
rs603324	1.00[ASN][1000 genomes]
rs613880	1.00[ASN][1000 genomes]
rs614653	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619343	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149275	1.00[ASN][1000 genomes]
rs62149282	1.00[ASN][1000 genomes]
rs623095	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625434	1.00[ASN][1000 genomes]
rs631550	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632670	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634476	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634574	1.00[ASN][1000 genomes]
rs634785	1.00[ASN][1000 genomes]
rs634929	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636319	1.00[ASN][1000 genomes]
rs636332	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636734	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641123	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642847	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645489	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646357	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647269	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650352	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653842	1.00[ASN][1000 genomes]
rs654157	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546757	1.00[ASN][1000 genomes]
rs6546758	1.00[ASN][1000 genomes]
rs6546765	1.00[ASN][1000 genomes]
rs6546776	1.00[ASN][1000 genomes]
rs6546777	1.00[ASN][1000 genomes]
rs6546778	1.00[ASN][1000 genomes]
rs6546779	1.00[ASN][1000 genomes]
rs656370	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656440	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658067	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661395	1.00[ASN][1000 genomes]
rs664652	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666361	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669074	1.00[ASN][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6711257	1.00[ASN][1000 genomes]
rs6714580	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671550	1.00[ASN][1000 genomes]
rs671721	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736305	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741956	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742088	1.00[ASN][1000 genomes]
rs6742312	1.00[ASN][1000 genomes]
rs6747378	1.00[ASN][1000 genomes]
rs674863	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750766	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs678684	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680380	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681574	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681908	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683328	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684673	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687325	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687371	1.00[ASN][1000 genomes]
rs688433	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420391	1.00[ASN][1000 genomes]
rs7560529	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7560599	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7565198	1.00[ASN][1000 genomes]
rs7571064	1.00[ASN][1000 genomes]
rs7584538	1.00[ASN][1000 genomes]
rs7591025	1.00[ASN][1000 genomes]
rs7591303	1.00[ASN][1000 genomes]
rs7598238	1.00[ASN][1000 genomes]
rs7601020	1.00[ASN][1000 genomes]
rs7601318	1.00[ASN][1000 genomes]
rs7603797	1.00[ASN][1000 genomes]
rs7603966	1.00[ASN][1000 genomes]
rs983928	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72647400-72688800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:72653200-72675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:72654600-72671200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:72654800-72671400	Weak transcription	Aorta	Aorta
5	chr2:72655000-72690400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:72655800-72671400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:72655800-72690600	Weak transcription	Left Ventricle	heart
8	chr2:72657200-72671400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:72664400-72671400	Weak transcription	Ovary	ovary
10	chr2:72664600-72674200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:72665800-72689000	Weak transcription	Adipose Nuclei	Adipose

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