Variant report

Variant	rs11711123
Chromosome Location	chr3:191018410-191018411
allele	C/T
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:33)

rs_ID	r²[population]
rs10937471	0.90[EUR][1000 genomes]
rs10937472	0.89[EUR][1000 genomes]
rs11720878	0.89[EUR][1000 genomes]
rs11720880	0.90[EUR][1000 genomes]
rs12486272	0.90[EUR][1000 genomes]
rs12488393	0.89[EUR][1000 genomes]
rs12495011	0.89[EUR][1000 genomes]
rs12496729	0.90[EUR][1000 genomes]
rs12629952	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12638308	0.89[EUR][1000 genomes]
rs13062195	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067368	0.90[EUR][1000 genomes]
rs13078168	0.90[EUR][1000 genomes]
rs1369280	0.90[EUR][1000 genomes]
rs1398717	0.90[EUR][1000 genomes]
rs1398718	0.90[EUR][1000 genomes]
rs150503	0.85[EUR][1000 genomes]
rs1584934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184142	0.85[EUR][1000 genomes]
rs2117544	0.87[EUR][1000 genomes]
rs2117546	0.88[EUR][1000 genomes]
rs293862	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293863	0.85[EUR][1000 genomes]
rs293869	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34670047	0.90[EUR][1000 genomes]
rs34848591	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56188122	0.83[ASN][1000 genomes]
rs66501888	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765783	0.89[EUR][1000 genomes]
rs6769894	0.89[EUR][1000 genomes]
rs6769898	0.89[EUR][1000 genomes]
rs67775561	0.90[EUR][1000 genomes]
rs6801766	0.89[EUR][1000 genomes]

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	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv997716	chr3:190943706-191027499	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191010200-191021000	Enhancers	Primary B cells from peripheral blood	blood
2	chr3:191014400-191018600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr3:191015600-191019600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:191017000-191018600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:191017200-191019800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:191018400-191018600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:191018400-191018800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr3:191018400-191019000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:191018400-191019200	Flanking Active TSS	GM12878-XiMat	blood

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