Variant report

Variant	rs17692715
Chromosome Location	chr6:73356342-73356343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10455268	1.00[CHB][hapmap]
rs10484913	1.00[CHB][hapmap]
rs10485213	1.00[CHB][hapmap]
rs10943043	0.89[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943045	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10943050	1.00[CHB][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10943051	1.00[CHB][hapmap]
rs10943055	1.00[CHB][hapmap]
rs10943057	1.00[CHB][hapmap]
rs11758568	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12190091	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190092	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12191039	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12191848	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12193274	0.89[ASW][hapmap];0.91[CEU][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12194741	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12195259	0.91[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12196826	0.91[CEU][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12197962	1.00[CHB][hapmap]
rs12199549	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12200468	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[ASN][1000 genomes]
rs12200908	1.00[CHB][hapmap]
rs12201380	0.95[CEU][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12203288	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12204139	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12204989	1.00[CHB][hapmap]
rs12205254	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205374	1.00[CHB][hapmap]
rs12208053	1.00[CHB][hapmap]
rs12208907	1.00[CHB][hapmap]
rs12210850	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12211580	1.00[CHB][hapmap]
rs12212268	1.00[CHB][hapmap]
rs12212419	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12212562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212818	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12214096	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12214894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214895	1.00[CHB][hapmap]
rs12215865	1.00[CHB][hapmap]
rs12374630	1.00[CHB][hapmap]
rs12374631	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17692874	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17692898	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17729195	1.00[CHB][hapmap]
rs17749408	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17749420	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[ASN][1000 genomes]
rs1928153	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34821312	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55633371	1.00[ASN][1000 genomes]
rs55826353	1.00[ASN][1000 genomes]
rs56086224	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254477	1.00[ASN][1000 genomes]
rs56316829	1.00[ASN][1000 genomes]
rs62411975	1.00[ASN][1000 genomes]
rs62411984	1.00[ASN][1000 genomes]
rs62411986	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6453591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6453592	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453593	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453594	0.91[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922524	1.00[ASN][1000 genomes]
rs6922932	1.00[ASN][1000 genomes]
rs6928073	1.00[YRI][hapmap]
rs6931918	1.00[CHB][hapmap]
rs6935174	1.00[CHB][hapmap]
rs719830	1.00[CHB][hapmap]
rs7748594	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7768673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776215	1.00[CHB][hapmap]
rs9342960	0.80[YRI][hapmap]
rs9350467	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17692715	C6orf221	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73334400-73358800	Weak transcription	HSMM	muscle
2	chr6:73336200-73359000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:73336200-73362800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:73338600-73358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:73346800-73358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:73352000-73358600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:73355000-73358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:73355200-73362200	Weak transcription	Psoas Muscle	Psoas
9	chr6:73355600-73357800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:73356200-73356800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:73356200-73357400	Enhancers	HMEC	breast
12	chr6:73356200-73357800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:73356200-73358000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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