Variant report

Variant	rs630241
Chromosome Location	chr2:72621970-72621971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 193 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:186)

rs_ID	r²[population]
rs10168145	1.00[CHB][hapmap]
rs10173381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183056	1.00[CHB][hapmap]
rs10186080	1.00[CHB][hapmap]
rs10190674	1.00[CHB][hapmap]
rs10192800	1.00[CHB][hapmap]
rs10194216	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203965	1.00[CHB][hapmap]
rs10204415	1.00[CHB][hapmap]
rs10206555	1.00[CHB][hapmap]
rs10207299	1.00[CHB][hapmap]
rs10460572	1.00[CHB][hapmap]
rs10865391	1.00[CHB][hapmap]
rs11126366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126370	1.00[CHB][hapmap]
rs11126373	1.00[CHB][hapmap]
rs11126374	1.00[CHB][hapmap]
rs11126376	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11686713	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11690734	1.00[CHB][hapmap]
rs11694921	1.00[CHB][hapmap]
rs11902025	1.00[CHB][hapmap]
rs12052508	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12466613	1.00[CHB][hapmap]
rs12467816	1.00[CHB][hapmap]
rs12468057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12471136	1.00[CHB][hapmap]
rs12471312	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12471875	1.00[CHB][hapmap]
rs12476130	1.00[CHB][hapmap]
rs12476397	1.00[CHB][hapmap]
rs12618390	1.00[CHB][hapmap]
rs12713772	1.00[CHB][hapmap]
rs12713773	1.00[CHB][hapmap]
rs12992973	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12998681	1.00[CHB][hapmap]
rs13008041	1.00[CHB][hapmap]
rs13008258	1.00[CHB][hapmap]
rs13011477	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13383535	1.00[CHB][hapmap]
rs13390754	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409513	1.00[CHB][hapmap]
rs13409641	1.00[CHB][hapmap]
rs13432350	1.00[CHB][hapmap]
rs1400581	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1400582	1.00[CHB][hapmap]
rs1446888	1.00[CHB][hapmap]
rs1446890	1.00[CHB][hapmap]
rs1446891	1.00[CHB][hapmap]
rs1446892	1.00[CHB][hapmap]
rs1446893	1.00[CHB][hapmap]
rs1517181	1.00[CHB][hapmap]
rs1517185	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1568145	1.00[CHB][hapmap]
rs1596930	1.00[ASN][1000 genomes]
rs1596931	1.00[ASN][1000 genomes]
rs1711838	1.00[CHB][hapmap]
rs1947118	1.00[ASN][1000 genomes]
rs2109960	1.00[CHB][hapmap]
rs2138683	1.00[CHB][hapmap]
rs2192014	1.00[CHB][hapmap]
rs2192015	1.00[CHB][hapmap]
rs2203679	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2420444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901146	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3115351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364045	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4852286	1.00[CHB][hapmap]
rs4852287	1.00[CHB][hapmap]
rs4852288	1.00[CHB][hapmap]
rs4852291	1.00[CHB][hapmap]
rs4852872	1.00[CHB][hapmap]
rs4852873	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4852874	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4852875	1.00[CHB][hapmap]
rs4852876	1.00[CHB][hapmap]
rs4852877	1.00[CHB][hapmap]
rs4852878	1.00[CHB][hapmap]
rs4852883	1.00[ASN][1000 genomes]
rs57270251	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs583119	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583673	1.00[CHB][hapmap]
rs584522	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585653	1.00[CHB][hapmap]
rs585938	1.00[CHB][hapmap]
rs587431	1.00[CHB][hapmap]
rs587744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs590252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590345	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs598138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598496	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602465	1.00[CHB][hapmap]
rs613880	1.00[CHB][hapmap]
rs614653	1.00[CHB][hapmap]
rs620770	1.00[ASN][1000 genomes]
rs625434	1.00[CHB][hapmap]
rs628432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632670	1.00[CHB][hapmap]
rs634476	1.00[CHB][hapmap]
rs634574	1.00[CHB][hapmap]
rs634586	1.00[ASN][1000 genomes]
rs634785	1.00[CHB][hapmap]
rs634929	1.00[CHB][hapmap]
rs636319	1.00[CHB][hapmap]
rs636734	1.00[CHB][hapmap]
rs638854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641123	1.00[CHB][hapmap]
rs641939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645489	1.00[CHB][hapmap]
rs646357	1.00[CHB][hapmap]
rs647242	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs647269	1.00[CHB][hapmap]
rs650352	1.00[CHB][hapmap]
rs653220	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6546756	1.00[CHB][hapmap]
rs6546759	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546760	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546764	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546765	1.00[CHB][hapmap]
rs6546777	1.00[CHB][hapmap]
rs6546778	1.00[CHB][hapmap]
rs656370	1.00[CHB][hapmap]
rs656440	1.00[CHB][hapmap]
rs658067	1.00[CHB][hapmap]
rs659833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663218	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666361	1.00[CHB][hapmap]
rs668586	1.00[ASN][1000 genomes]
rs669074	1.00[CHB][hapmap]
rs6711265	1.00[ASN][1000 genomes]
rs6714312	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714419	1.00[ASN][1000 genomes]
rs6714595	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs671721	1.00[CHB][hapmap]
rs6727607	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6729863	1.00[CHB][hapmap]
rs6733210	1.00[CHB][hapmap]
rs6737565	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742264	1.00[CHB][hapmap]
rs6742312	1.00[CHB][hapmap]
rs6747378	1.00[CHB][hapmap]
rs674863	1.00[CHB][hapmap]
rs6750766	1.00[CHB][hapmap]
rs6752122	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753073	1.00[CHB][hapmap]
rs6758462	1.00[CHB][hapmap]
rs6758593	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs678684	1.00[CHB][hapmap]
rs680380	1.00[CHB][hapmap]
rs680495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681574	1.00[CHB][hapmap]
rs683328	1.00[CHB][hapmap]
rs684673	1.00[CHB][hapmap]
rs687325	1.00[CHB][hapmap]
rs687371	1.00[CHB][hapmap]
rs688433	1.00[CHB][hapmap]
rs689154	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420588	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7558686	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559131	1.00[CHB][hapmap]
rs7560529	1.00[CHB][hapmap]
rs7563738	1.00[ASN][1000 genomes]
rs7565198	1.00[CHB][hapmap]
rs7568803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577238	1.00[CHB][hapmap]
rs7577877	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7580952	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583271	1.00[CHB][hapmap]
rs7591025	1.00[CHB][hapmap]
rs7591303	1.00[CHB][hapmap]
rs7594350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595180	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595315	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598238	1.00[CHB][hapmap]
rs7600273	1.00[ASN][1000 genomes]
rs7601020	1.00[CHB][hapmap]
rs7601318	1.00[CHB][hapmap]
rs7603966	1.00[CHB][hapmap]
rs9309464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983928	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3429281	chr2:72590346-72623676	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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
7	nsv2773	chr2:72603908-72649311	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72613800-72654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:72619600-72625400	Weak transcription	Aorta	Aorta
3	chr2:72619600-72640600	Weak transcription	Ovary	ovary
4	chr2:72621400-72622800	Enhancers	Fetal Lung	lung
5	chr2:72621400-72622800	Enhancers	A549	lung
6	chr2:72621600-72622000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:72621600-72622200	Enhancers	Fetal Heart	heart
8	chr2:72621600-72622200	Enhancers	Hela-S3	cervix
9	chr2:72621800-72622000	Enhancers	Pancreatic Islets	Pancreatic Islet

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