Variant report

Variant	rs199629
Chromosome Location	chr6:72254302-72254303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12528750	0.81[CEU][hapmap]
rs12529063	0.81[CEU][hapmap]
rs1486596	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs169210	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs199626	0.86[ASN][1000 genomes]
rs199630	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs199631	0.85[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs199632	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs512554	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs514244	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs565651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9341323	0.87[ASN][1000 genomes]
rs9341324	0.85[ASN][1000 genomes]
rs9358959	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases
2	nsv830685	chr6:72244007-72410757	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs199629	RIMS1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72251400-72255600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:72251800-72255800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:72253200-72254800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:72253200-72255200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:72253400-72254600	Enhancers	NHDF-Ad	bronchial
6	chr6:72253400-72254800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:72253400-72254800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:72253400-72255400	Enhancers	Osteobl	bone
9	chr6:72253600-72254800	Enhancers	NHLF	lung
10	chr6:72253600-72255000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:72253800-72254400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:72253800-72254400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:72254000-72254800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr6:72254000-72254800	Enhancers	NH-A	brain
15	chr6:72254200-72254600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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