Variant report

Variant	rs11960511
Chromosome Location	chr5:35883241-35883242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10491434	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491435	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1053496	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11567685	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11567699	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11567701	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11567751	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949691	0.81[EUR][1000 genomes]
rs11949736	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11950831	0.83[EUR][1000 genomes]
rs1494554	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494571	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1603071	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16902573	0.87[EUR][1000 genomes]
rs1833907	0.87[EUR][1000 genomes]
rs2287900	0.87[EUR][1000 genomes]
rs3194051	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822733	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4024110	0.84[EUR][1000 genomes]
rs55654952	0.87[EUR][1000 genomes]
rs56133736	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57217480	0.80[EUR][1000 genomes]
rs57545288	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62351973	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62355269	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62355271	0.89[EUR][1000 genomes]
rs62355272	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67207043	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6859465	0.82[EUR][1000 genomes]
rs6871116	0.83[EUR][1000 genomes]
rs700179	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702828	0.86[EUR][1000 genomes]
rs7705615	0.87[EUR][1000 genomes]
rs7733008	0.80[EUR][1000 genomes]
rs9764914	0.87[EUR][1000 genomes]
rs987107	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990716	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv471011	chr5:35861068-36003217	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830261	chr5:35863084-36018048	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35860400-35883800	Weak transcription	Small Intestine	intestine
2	chr5:35876600-35884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:35876800-35883600	Weak transcription	Osteobl	bone
4	chr5:35877400-35883600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:35878200-35883600	Weak transcription	HSMM	muscle
6	chr5:35879800-35883800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:35879800-35885000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr5:35880200-35883400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:35880200-35885000	Enhancers	Thymus	Thymus
10	chr5:35880400-35884400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:35880600-35883400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:35880800-35883600	Weak transcription	Primary T cells from cord blood	blood
13	chr5:35881400-35885600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:35881800-35884800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:35881800-35885200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr5:35882000-35884800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:35882000-35885200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:35882400-35883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:35882600-35884600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:35882600-35884800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:35882600-35884800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr5:35882800-35884000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr5:35882800-35885600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:35882800-35887800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:35883200-35883400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr5:35883200-35883400	Flanking Active TSS	Hela-S3	cervix
27	chr5:35883200-35883600	Flanking Active TSS	Dnd41	blood
28	chr5:35883200-35884000	Enhancers	NHLF	lung
29	chr5:35883200-35884200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:35883200-35884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:35883200-35885000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr5:35883200-35885200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:35883200-35885200	Enhancers	Fetal Thymus	thymus
34	chr5:35883200-35885200	Enhancers	NHEK	skin
35	chr5:35883200-35885400	Enhancers	NHDF-Ad	bronchial
36	chr5:35883200-35887800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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