Variant report

Variant	rs10783988
Chromosome Location	chr12:59969474-59969475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10506395	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10732745	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10735880	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10735881	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10747847	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10747848	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10747850	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10747851	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10747852	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10783989	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783992	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10877315	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10877320	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11173084	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11173085	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11173086	0.83[EUR][1000 genomes]
rs11173087	0.83[EUR][1000 genomes]
rs11173090	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1391130	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1497470	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1566164	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1908977	0.91[EUR][1000 genomes]
rs1966281	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2132871	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2132873	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2646311	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2671854	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs276006	0.82[EUR][1000 genomes]
rs276008	0.80[EUR][1000 genomes]
rs3106580	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35986083	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4019983	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs420644	0.80[EUR][1000 genomes]
rs4421780	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4536269	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4635118	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4760291	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4760292	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4760293	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4760294	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6581255	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6581256	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6581257	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6581258	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6581259	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6581260	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6581261	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7133515	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7133612	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7303302	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7312134	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7970605	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7975216	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs974459	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
2	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv899130	chr12:59895548-59970631	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv1827166	chr12:59916767-59971821	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv13197	chr12:59968566-59970851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv559099	chr12:59969179-59970132	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv559100	chr12:59969179-59970631	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59961800-59970600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:59968600-59970600	Weak transcription	Dnd41	blood
3	chr12:59969000-59970600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:59969000-59970800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:59969200-59971800	Enhancers	Primary T cells from cord blood	blood
6	chr12:59969400-59969600	Enhancers	Fetal Thymus	thymus

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