Variant report

Variant	rs12103962
Chromosome Location	chr18:8030758-8030759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2099932	0.83[AMR][1000 genomes]
rs28367342	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28379285	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28478486	0.82[AFR][1000 genomes]
rs28511885	0.88[AFR][1000 genomes]
rs28521877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28526245	1.00[AFR][1000 genomes]
rs28557220	0.94[AFR][1000 genomes]
rs28569201	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28611270	0.94[AFR][1000 genomes]
rs28709298	1.00[AFR][1000 genomes]
rs73385648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9948263	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9949297	0.83[AMR][1000 genomes]
rs9950590	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9951610	0.91[AFR][1000 genomes]
rs9952873	0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9952921	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9953560	0.82[AFR][1000 genomes]
rs9955097	0.83[AMR][1000 genomes]
rs9955973	0.83[AMR][1000 genomes]
rs9958058	0.83[AMR][1000 genomes]
rs9963151	0.88[AFR][1000 genomes]
rs9963467	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9965217	0.82[AFR][1000 genomes]
rs9966934	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7987600-8033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8009000-8036200	Weak transcription	Thymus	Thymus
3	chr18:8017000-8038600	Weak transcription	NH-A	brain
4	chr18:8020600-8036000	Weak transcription	A549	lung
5	chr18:8020800-8038800	Weak transcription	Adipose Nuclei	Adipose
6	chr18:8021200-8052000	Weak transcription	Psoas Muscle	Psoas
7	chr18:8026800-8036200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:8029400-8033400	Weak transcription	Gastric	stomach
9	chr18:8029400-8037600	Weak transcription	Aorta	Aorta
10	chr18:8029600-8031600	Weak transcription	Right Ventricle	heart
11	chr18:8029600-8033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:8029600-8042600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:8030000-8031600	Weak transcription	Left Ventricle	heart
14	chr18:8030000-8038400	Weak transcription	Lung	lung
15	chr18:8030000-8056400	Weak transcription	Pancreas	Pancrea

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