Variant report

Variant	rs6868846
Chromosome Location	chr5:59128754-59128755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1003218	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs1003219	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs10042020	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs10066777	0.85[ASN][1000 genomes]
rs10514880	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs13186506	0.82[JPT][hapmap]
rs1369286	0.88[ASN][1000 genomes]
rs154144	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs159608	0.96[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs159610	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs159622	0.92[CHB][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.83[TSI][hapmap];0.97[ASN][1000 genomes]
rs159624	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs159626	0.97[ASN][1000 genomes]
rs16890200	0.86[ASN][1000 genomes]
rs16890269	0.82[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs16890276	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs16890316	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs173945	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs181924	0.82[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256348	0.95[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256350	0.92[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.97[ASN][1000 genomes]
rs256353	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6859121	0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs6889984	0.92[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv515987	chr5:59128754-59140876	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6868846	MIER3	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59110400-59139000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:59124400-59129200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:59124800-59128800	Weak transcription	Fetal Stomach	stomach
4	chr5:59124800-59128800	Weak transcription	HSMMtube	muscle
5	chr5:59126000-59128800	Weak transcription	NH-A	brain
6	chr5:59126200-59129400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:59126800-59129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:59127000-59129600	Enhancers	HSMM	muscle
9	chr5:59127200-59128800	Enhancers	Fetal Kidney	kidney
10	chr5:59127200-59129200	Enhancers	Fetal Lung	lung
11	chr5:59127600-59128800	Weak transcription	Fetal Brain Male	brain
12	chr5:59127800-59128800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:59127800-59129000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:59127800-59129000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:59127800-59129400	Enhancers	Fetal Brain Female	brain
16	chr5:59127800-59131200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:59128000-59129200	Enhancers	HepG2	liver
18	chr5:59128000-59136000	Enhancers	Hela-S3	cervix
19	chr5:59128200-59160400	Weak transcription	Aorta	Aorta
20	chr5:59128600-59130200	Enhancers	Liver	Liver

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