Variant report

Variant	rs4446700
Chromosome Location	chr8:104886435-104886436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10089467	0.80[ASN][1000 genomes]
rs10089978	0.94[ASN][1000 genomes]
rs10091544	0.86[ASN][1000 genomes]
rs10093057	0.95[ASN][1000 genomes]
rs10093196	0.80[ASN][1000 genomes]
rs10103621	0.80[ASN][1000 genomes]
rs10108247	0.94[ASN][1000 genomes]
rs10505052	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10808385	0.82[ASN][1000 genomes]
rs10955327	0.82[ASN][1000 genomes]
rs10955328	0.82[ASN][1000 genomes]
rs10955329	0.80[ASN][1000 genomes]
rs10955330	0.80[ASN][1000 genomes]
rs10955332	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955333	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10955334	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955336	0.94[ASN][1000 genomes]
rs12155936	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12156016	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543866	0.82[ASN][1000 genomes]
rs12544763	0.82[ASN][1000 genomes]
rs12547180	0.82[ASN][1000 genomes]
rs12548032	0.82[ASN][1000 genomes]
rs12548406	0.86[EUR][1000 genomes]
rs12550348	0.90[EUR][1000 genomes]
rs12675210	0.82[ASN][1000 genomes]
rs12675494	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675778	0.82[ASN][1000 genomes]
rs12676673	0.82[ASN][1000 genomes]
rs12679980	0.94[ASN][1000 genomes]
rs12680651	0.82[ASN][1000 genomes]
rs12682214	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1390848	0.80[ASN][1000 genomes]
rs1402442	0.82[ASN][1000 genomes]
rs1496845	0.80[ASN][1000 genomes]
rs1496846	0.82[ASN][1000 genomes]
rs1521057	0.82[ASN][1000 genomes]
rs1521060	0.82[ASN][1000 genomes]
rs1521061	0.82[ASN][1000 genomes]
rs16870702	0.82[ASN][1000 genomes]
rs16870707	0.82[ASN][1000 genomes]
rs16870714	0.82[ASN][1000 genomes]
rs16870730	0.82[ASN][1000 genomes]
rs16870769	0.82[ASN][1000 genomes]
rs16870774	0.82[ASN][1000 genomes]
rs16870786	0.82[ASN][1000 genomes]
rs16870788	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16870792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16870816	0.95[ASN][1000 genomes]
rs17817357	0.94[ASN][1000 genomes]
rs1851151	0.82[ASN][1000 genomes]
rs1874519	0.82[ASN][1000 genomes]
rs1893531	0.80[ASN][1000 genomes]
rs1948569	0.80[ASN][1000 genomes]
rs2023025	0.85[EUR][1000 genomes]
rs2023026	0.85[EUR][1000 genomes]
rs2047346	0.80[ASN][1000 genomes]
rs2132644	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2173081	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2388783	0.82[ASN][1000 genomes]
rs2388849	0.82[ASN][1000 genomes]
rs28362512	0.82[ASN][1000 genomes]
rs28362513	0.82[ASN][1000 genomes]
rs28610511	0.80[ASN][1000 genomes]
rs35220144	0.80[ASN][1000 genomes]
rs3824118	0.82[ASN][1000 genomes]
rs3919234	0.90[ASN][1000 genomes]
rs3956332	0.80[ASN][1000 genomes]
rs4424225	0.80[ASN][1000 genomes]
rs4734733	0.80[ASN][1000 genomes]
rs55880815	0.95[ASN][1000 genomes]
rs56101019	0.82[ASN][1000 genomes]
rs56232122	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56369021	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56990053	0.82[ASN][1000 genomes]
rs57397838	0.82[ASN][1000 genomes]
rs57643265	0.82[ASN][1000 genomes]
rs58139259	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58345884	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58858789	0.82[ASN][1000 genomes]
rs61618724	0.82[ASN][1000 genomes]
rs6468892	0.80[ASN][1000 genomes]
rs6986683	0.95[ASN][1000 genomes]
rs6986692	0.89[ASN][1000 genomes]
rs6997813	0.82[ASN][1000 genomes]
rs72681360	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7357460	0.90[ASN][1000 genomes]
rs7818306	0.82[ASN][1000 genomes]
rs7826803	0.82[ASN][1000 genomes]
rs7833762	0.82[ASN][1000 genomes]
rs7836680	0.82[ASN][1000 genomes]
rs7840870	0.95[ASN][1000 genomes]
rs9650010	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2752692	chr8:104520824-105123824	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016387	chr8:104578389-104931853	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv1841024	chr8:104872512-104908099	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4446700	RIMS2	cis	Thyroid	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104859400-104897200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104885600-104886600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:104885600-104886800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:104886400-104887200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:104886400-104887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:104886400-104887200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:104886400-104887200	Enhancers	HMEC	breast
8	chr8:104886400-104887200	Enhancers	NHEK	skin

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