Variant report

Variant	rs10505052
Chromosome Location	chr8:104907133-104907134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10104167	0.94[ASN][1000 genomes]
rs10453058	0.91[ASN][1000 genomes]
rs10955332	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10955333	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955334	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12155936	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12156016	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12156323	1.00[ASN][1000 genomes]
rs12335221	0.94[ASN][1000 genomes]
rs12542692	1.00[ASN][1000 genomes]
rs12544699	0.83[CEU][hapmap]
rs12548406	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549891	0.83[EUR][1000 genomes]
rs12550348	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675494	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12682214	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1402442	0.83[CEU][hapmap]
rs1533733	0.83[CEU][hapmap]
rs1533734	0.83[CEU][hapmap]
rs16870776	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap]
rs16870788	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16870792	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17238250	1.00[ASN][1000 genomes]
rs17238501	1.00[ASN][1000 genomes]
rs17239114	0.94[ASN][1000 genomes]
rs1954898	0.91[ASN][1000 genomes]
rs1954899	0.91[ASN][1000 genomes]
rs2023025	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023026	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023028	1.00[ASN][1000 genomes]
rs2023030	0.97[ASN][1000 genomes]
rs2023034	0.94[ASN][1000 genomes]
rs2096978	0.89[ASN][1000 genomes]
rs2132644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173081	0.87[AMR][1000 genomes]
rs28826404	0.94[ASN][1000 genomes]
rs28873475	1.00[ASN][1000 genomes]
rs4446700	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4734085	0.91[ASN][1000 genomes]
rs4734738	0.97[ASN][1000 genomes]
rs56123555	1.00[ASN][1000 genomes]
rs56232122	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56369021	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58139259	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58345884	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61229244	1.00[ASN][1000 genomes]
rs7009080	0.94[ASN][1000 genomes]
rs7357464	0.94[ASN][1000 genomes]
rs73699009	1.00[ASN][1000 genomes]
rs73699011	1.00[ASN][1000 genomes]
rs7829175	1.00[JPT][hapmap]
rs7836680	0.83[CEU][hapmap]
rs7841847	0.97[ASN][1000 genomes]
rs7844763	0.94[ASN][1000 genomes]
rs9650010	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9650011	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9802039	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
7	esv3479715	chr8:104906252-104912803	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	esv3479717	chr8:104906257-104912822	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv3479716	chr8:104906319-104912742	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3423636	chr8:104906321-104912711	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
11	esv3479719	chr8:104906382-104912703	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	esv12257	chr8:104906431-104912684	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10505052	RIMS2	cis	Thyroid	GTEx
rs10505052	RP11-1C8.7	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104897200-104914200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:104898200-104919000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:104899400-104933400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:104907000-104907200	Enhancers	Fetal Intestine Small	intestine

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