Variant report

Variant	rs59252812
Chromosome Location	chr11:104393979-104393980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10736639	0.98[AFR][1000 genomes]
rs10736640	0.98[AFR][1000 genomes]
rs10736641	1.00[AFR][1000 genomes]
rs1352284	0.81[AFR][1000 genomes]
rs1386654	1.00[AFR][1000 genomes]
rs1386656	0.98[AFR][1000 genomes]
rs1386661	1.00[AFR][1000 genomes]
rs1471925	1.00[AFR][1000 genomes]
rs1487686	1.00[AFR][1000 genomes]
rs1487693	0.91[AFR][1000 genomes]
rs1565129	1.00[AFR][1000 genomes]
rs17102633	0.84[AFR][1000 genomes]
rs1906305	0.98[AFR][1000 genomes]
rs2046653	0.98[AFR][1000 genomes]
rs2129673	0.91[AFR][1000 genomes]
rs2129674	0.95[AFR][1000 genomes]
rs4755041	0.95[AFR][1000 genomes]
rs6591085	0.98[AFR][1000 genomes]
rs7111739	1.00[AFR][1000 genomes]
rs73612903	0.98[AFR][1000 genomes]
rs73612921	1.00[AFR][1000 genomes]
rs73620012	0.87[AFR][1000 genomes]
rs73620028	0.84[AFR][1000 genomes]
rs73626745	0.95[AFR][1000 genomes]
rs7928867	0.96[AFR][1000 genomes]
rs7930510	1.00[AFR][1000 genomes]
rs970827	1.00[AFR][1000 genomes]
rs980425	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043976	chr11:103881236-104526403	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1040367	chr11:103956747-104440470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv898352	chr11:104274535-104452042	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv898353	chr11:104274535-104497607	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv428579	chr11:104298339-104459797	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv898354	chr11:104309414-104417374	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1054278	chr11:104317164-104562129	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1053886	chr11:104328822-104562129	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1037091	chr11:104330237-104559477	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv556216	chr11:104333651-104560789	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1048500	chr11:104348766-104548809	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104393000-104394000	Enhancers	Adipose Nuclei	Adipose
2	chr11:104393000-104394000	Enhancers	Brain Germinal Matrix	brain
3	chr11:104393000-104395600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:104393400-104394000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:104393400-104394600	Enhancers	Brain Angular Gyrus	brain
6	chr11:104393400-104395200	Enhancers	Ovary	ovary
7	chr11:104393600-104394000	Enhancers	Brain Hippocampus Middle	brain
8	chr11:104393600-104394000	Enhancers	Brain Substantia Nigra	brain
9	chr11:104393600-104395400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:104393600-104396200	Weak transcription	Fetal Brain Female	brain
11	chr11:104393800-104396200	Weak transcription	Pancreas	Pancrea
12	chr11:104393800-104396400	Weak transcription	Aorta	Aorta
13	chr11:104393800-104402600	Weak transcription	Fetal Heart	heart

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