Variant report

Variant	rs7721050
Chromosome Location	chr5:49929151-49929152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10038842	0.84[EUR][1000 genomes]
rs10041633	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10045122	0.82[EUR][1000 genomes]
rs10052001	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10071272	0.85[EUR][1000 genomes]
rs10434558	0.85[EUR][1000 genomes]
rs10471940	0.84[EUR][1000 genomes]
rs10940423	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10940424	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10940472	0.81[ASN][1000 genomes]
rs10940497	0.81[ASN][1000 genomes]
rs11738761	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11739828	0.91[AFR][1000 genomes]
rs11741205	0.97[EUR][1000 genomes]
rs11745945	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11750241	0.81[ASN][1000 genomes]
rs11750771	0.81[ASN][1000 genomes]
rs12188262	0.81[ASN][1000 genomes]
rs12188654	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12653803	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13153982	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13159764	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13162921	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13173734	0.81[ASN][1000 genomes]
rs16884018	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs182230	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1823263	0.81[ASN][1000 genomes]
rs1839128	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1900738	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1972980	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034392	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2034393	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2034394	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2121979	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2166893	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2166894	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2354526	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2594706	0.81[ASN][1000 genomes]
rs282553	0.81[ASN][1000 genomes]
rs282557	0.81[ASN][1000 genomes]
rs282561	0.81[ASN][1000 genomes]
rs28495689	0.88[ASN][1000 genomes]
rs35667121	0.81[ASN][1000 genomes]
rs3763367	0.84[ASN][1000 genomes]
rs4101529	0.93[EUR][1000 genomes]
rs4282859	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4415044	0.91[EUR][1000 genomes]
rs4440312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572006	0.92[ASN][1000 genomes]
rs4865592	0.81[EUR][1000 genomes]
rs4865593	0.82[EUR][1000 genomes]
rs4865628	0.81[ASN][1000 genomes]
rs4865846	0.85[EUR][1000 genomes]
rs4865895	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4865896	0.93[EUR][1000 genomes]
rs57079776	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366937	0.81[ASN][1000 genomes]
rs6450292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6450301	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6863162	0.92[ASN][1000 genomes]
rs6863575	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6867590	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6868550	1.00[ASN][1000 genomes]
rs6872070	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6872496	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6879306	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6887758	0.92[ASN][1000 genomes]
rs6888147	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6890519	0.81[ASN][1000 genomes]
rs7702541	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7709831	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7710150	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7711839	0.81[EUR][1000 genomes]
rs7728222	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7730847	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7734389	0.84[EUR][1000 genomes]
rs7736142	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1022067	chr5:49584188-49960083	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv537758	chr5:49584188-49960083	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv964850	chr5:49883635-49942856	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv14399	chr5:49885912-49934455	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv969047	chr5:49918610-49934158	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7721050	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49926400-49934200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:49926600-49934200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:49926800-49934000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:49926800-49934400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr5:49927200-49929200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr5:49927200-49930600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:49927400-49930400	Enhancers	Primary T cells from cord blood	blood
8	chr5:49927400-49931600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr5:49927400-49932400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:49927400-49932800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:49927800-49930200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:49928000-49930000	Enhancers	Dnd41	blood
13	chr5:49928200-49931800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr5:49928400-49932400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:49928600-49929800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:49929000-49930400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:49929000-49930800	Enhancers	Thymus	Thymus
18	chr5:49929000-49932400	Enhancers	Primary monocytes fromperipheralblood	blood

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