Variant report

Variant	rs12200468
Chromosome Location	chr6:73351870-73351871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73332489..73334434-chr6:73351844..73354373,2	K562	blood:
2	chr6:73351149..73353791-chr6:73359149..73361413,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10455268	1.00[CHB][hapmap]
rs10484913	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs10485213	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10943043	1.00[ASN][1000 genomes]
rs10943048	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10943050	1.00[CHB][hapmap]
rs10943051	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10943055	1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs10943057	0.85[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs11758568	1.00[ASN][1000 genomes]
rs11759937	0.88[EUR][1000 genomes]
rs12189933	1.00[CHB][hapmap]
rs12189974	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12190091	1.00[ASN][1000 genomes]
rs12191216	0.82[EUR][1000 genomes]
rs12194741	1.00[CHB][hapmap]
rs12197962	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12199549	1.00[CHB][hapmap]
rs12200908	1.00[CHB][hapmap]
rs12204139	1.00[CHB][hapmap]
rs12204989	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs12205254	1.00[ASN][1000 genomes]
rs12205374	1.00[CHB][hapmap]
rs12205834	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12208053	1.00[CHB][hapmap]
rs12208907	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12210850	1.00[CHB][hapmap]
rs12211580	1.00[CHB][hapmap]
rs12212268	1.00[CHB][hapmap]
rs12212562	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12212818	1.00[CHB][hapmap]
rs12214894	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12214895	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12215865	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12374630	1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12374631	1.00[CHB][hapmap]
rs17692715	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[ASN][1000 genomes]
rs17692874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17729195	1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs17749408	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17749420	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17796704	0.82[EUR][1000 genomes]
rs34821312	1.00[ASN][1000 genomes]
rs55633371	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55826353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56086224	1.00[ASN][1000 genomes]
rs56254477	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56316829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411975	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411990	0.82[EUR][1000 genomes]
rs6453591	1.00[CHB][hapmap];0.85[GIH][hapmap]
rs6453592	1.00[ASN][1000 genomes]
rs6453593	1.00[ASN][1000 genomes]
rs6453594	1.00[ASN][1000 genomes]
rs6922524	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922932	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931918	1.00[CHB][hapmap]
rs6935174	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs719830	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs72935423	0.88[EUR][1000 genomes]
rs7768673	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[ASN][1000 genomes]
rs7772197	0.80[EUR][1000 genomes]
rs7776215	1.00[CHB][hapmap];0.88[EUR][1000 genomes]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12200468	C6orf221	cis	cerebellum	SCAN
rs12200468	C6orf150	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73334400-73358800	Weak transcription	HSMM	muscle
2	chr6:73334600-73356200	Weak transcription	HMEC	breast
3	chr6:73336200-73359000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:73336200-73362800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:73337400-73356200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73338600-73358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:73346800-73358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:73349400-73354000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:73349400-73354800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:73350000-73354800	Weak transcription	Psoas Muscle	Psoas
11	chr6:73351000-73352000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:73351600-73352000	Flanking Active TSS	GM12878-XiMat	blood

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