Variant report

Variant	rs12207650
Chromosome Location	chr6:55952234-55952235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10456719	1.00[ASN][1000 genomes]
rs10484705	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484706	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10484707	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10484708	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs10807509	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1156708	1.00[ASN][1000 genomes]
rs12154070	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190240	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12193262	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193617	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs12194691	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12195034	1.00[CEU][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]
rs12196208	1.00[CEU][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12196632	1.00[CEU][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]
rs12197715	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198686	1.00[CEU][hapmap]
rs12200110	1.00[ASN][1000 genomes]
rs12200716	1.00[ASN][1000 genomes]
rs12201469	1.00[ASN][1000 genomes]
rs12201639	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202221	1.00[CEU][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]
rs12202885	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202972	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs12203971	1.00[ASN][1000 genomes]
rs12204894	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206360	1.00[ASN][1000 genomes]
rs12206617	1.00[ASN][1000 genomes]
rs12207093	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207141	1.00[ASN][1000 genomes]
rs12207333	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12207447	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208804	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs12209422	1.00[ASN][1000 genomes]
rs12209452	1.00[ASN][1000 genomes]
rs12211939	1.00[ASN][1000 genomes]
rs12214023	1.00[ASN][1000 genomes]
rs12214985	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[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]
rs12216230	1.00[ASN][1000 genomes]
rs12216252	1.00[ASN][1000 genomes]
rs17221418	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs17222493	0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs17821163	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs1925146	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs1925150	0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs1925151	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs1925168	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925183	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764061	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2840999	1.00[ASN][1000 genomes]
rs28452747	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2894828	1.00[ASN][1000 genomes]
rs4326238	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61465988	1.00[ASN][1000 genomes]
rs61524954	1.00[ASN][1000 genomes]
rs62411454	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411866	1.00[ASN][1000 genomes]
rs62411869	1.00[ASN][1000 genomes]
rs62411870	1.00[ASN][1000 genomes]
rs62412798	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62412802	1.00[ASN][1000 genomes]
rs62413463	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413464	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413466	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413468	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413482	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413546	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62413548	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs62413549	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413552	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413553	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413554	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413555	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931132	1.00[ASN][1000 genomes]
rs7742633	1.00[ASN][1000 genomes]
rs7751644	1.00[ASN][1000 genomes]
rs7770267	1.00[ASN][1000 genomes]
rs7771018	1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs885631	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs9296811	1.00[ASN][1000 genomes]
rs990188	0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs990189	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];1.00[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	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv526703	chr6:55810482-56023811	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1029182	chr6:55910866-55991956	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55920600-56018400	Weak transcription	Ovary	ovary
2	chr6:55929000-55956200	Weak transcription	Aorta	Aorta
3	chr6:55933200-55961000	Weak transcription	Placenta	Placenta
4	chr6:55948200-55953600	Weak transcription	Left Ventricle	heart
5	chr6:55951400-55954000	ZNF genes & repeats	Fetal Lung	lung
6	chr6:55951600-55952400	Enhancers	Fetal Heart	heart
7	chr6:55951600-55952800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
8	chr6:55951800-55952800	Enhancers	HUVEC	blood vessel
9	chr6:55952000-55952400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:55952000-55954000	ZNF genes & repeats	Fetal Muscle Leg	muscle

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