Variant report

Variant	rs6780729
Chromosome Location	chr3:111338336-111338337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11914473	0.98[ASN][1000 genomes]
rs1513328	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16858329	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16858353	0.81[ASN][1000 genomes]
rs2895386	0.97[ASN][1000 genomes]
rs3733176	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56172864	0.98[ASN][1000 genomes]
rs56306480	0.98[ASN][1000 genomes]
rs57067927	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57501419	1.00[ASN][1000 genomes]
rs57831621	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6763322	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6765832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768092	0.98[ASN][1000 genomes]
rs6770144	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6770679	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6771309	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6780210	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6787870	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6801876	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73230132	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73230143	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73852844	0.98[ASN][1000 genomes]
rs73852849	0.98[ASN][1000 genomes]
rs7431849	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7637536	0.86[ASN][1000 genomes]
rs9819529	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9858544	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111336600-111341200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:111336800-111339200	Enhancers	HMEC	breast
3	chr3:111336800-111339600	Enhancers	NHEK	skin
4	chr3:111336800-111341000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:111336800-111342400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:111337000-111338600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:111337000-111338600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:111337000-111342000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:111337000-111342800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:111337000-111346000	Weak transcription	Thymus	Thymus
11	chr3:111337200-111338400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:111337200-111338600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:111337200-111338800	Weak transcription	Fetal Thymus	thymus
14	chr3:111337200-111338800	Weak transcription	Dnd41	blood
15	chr3:111337200-111340400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr3:111337200-111342600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:111337200-111342600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:111337200-111343000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:111337200-111343200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:111337200-111344800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:111337200-111346000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:111337400-111338600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:111337800-111339000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:111337800-111339200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:111338200-111338800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:111338200-111339400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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