Variant report

Variant	rs17222493
Chromosome Location	chr6:56088253-56088254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10484705	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10484706	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10484707	1.00[ASN][1000 genomes]
rs10484708	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807509	0.87[YRI][hapmap]
rs12154070	1.00[ASN][1000 genomes]
rs12190240	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12193215	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12193262	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs12193617	1.00[YRI][hapmap]
rs12194691	1.00[ASN][1000 genomes]
rs12195034	0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs12196208	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12196632	0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs12197715	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12201639	1.00[ASN][1000 genomes]
rs12202221	0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs12202885	1.00[ASN][1000 genomes]
rs12202972	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12203971	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12204894	1.00[ASN][1000 genomes]
rs12206360	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12206617	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12207093	1.00[ASN][1000 genomes]
rs12207333	0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12207447	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12207650	0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs12208804	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12209422	1.00[ASN][1000 genomes]
rs12209452	1.00[ASN][1000 genomes]
rs12214023	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12214985	0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs12216230	1.00[ASN][1000 genomes]
rs17221418	1.00[ASN][1000 genomes]
rs17821163	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1925146	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925150	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925151	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925168	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs1925183	1.00[ASN][1000 genomes]
rs2764061	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2840999	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28452747	1.00[ASN][1000 genomes]
rs4326238	1.00[ASN][1000 genomes]
rs61465988	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61524954	1.00[ASN][1000 genomes]
rs62411454	1.00[ASN][1000 genomes]
rs62411866	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62411869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411870	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62412798	1.00[ASN][1000 genomes]
rs62412802	1.00[ASN][1000 genomes]
rs62413463	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62413464	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62413466	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62413468	1.00[ASN][1000 genomes]
rs62413482	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62413546	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62413548	0.83[AFR][1000 genomes]
rs62413549	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62413552	1.00[ASN][1000 genomes]
rs62413553	1.00[ASN][1000 genomes]
rs62413554	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62413555	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6459150	1.00[ASN][1000 genomes]
rs7742633	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7771018	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885631	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990188	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990189	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56064000-56090800	Weak transcription	Fetal Lung	lung
2	chr6:56082200-56104800	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:56085000-56093600	Enhancers	NHDF-Ad	bronchial
4	chr6:56086200-56088600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:56086200-56088600	Weak transcription	HMEC	breast
6	chr6:56086200-56088600	Weak transcription	NHEK	skin
7	chr6:56086200-56088800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:56086200-56092600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:56086600-56093200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:56087000-56089600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:56087000-56090400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:56087200-56088800	Enhancers	A549	lung
13	chr6:56087200-56090200	Enhancers	Colon Smooth Muscle	Colon
14	chr6:56087200-56090400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:56087400-56092400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:56087600-56089800	Enhancers	Osteobl	bone
17	chr6:56087600-56091000	Enhancers	Rectal Smooth Muscle	rectum
18	chr6:56087800-56088800	Weak transcription	Fetal Kidney	kidney
19	chr6:56087800-56093200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:56088000-56088800	Weak transcription	HSMM	muscle

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