Variant report

Variant	rs17223058
Chromosome Location	chr6:56099135-56099136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56098481..56101054-chr6:56102369..56105137,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1028390	0.85[CHB][hapmap]
rs10456726	0.86[ASN][1000 genomes]
rs10484704	0.85[CHB][hapmap]
rs10484724	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap]
rs10807507	0.85[CHB][hapmap]
rs10807508	0.85[CHB][hapmap]
rs10807510	0.85[CHB][hapmap]
rs12189567	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs12189571	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs12190695	0.85[CHB][hapmap]
rs12190930	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs12192012	0.85[CHB][hapmap]
rs12194051	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs12194192	0.85[CHB][hapmap]
rs12194397	0.85[CHB][hapmap]
rs12194916	0.85[CHB][hapmap]
rs12194997	0.85[CHB][hapmap]
rs12195340	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs12196213	0.85[CHB][hapmap]
rs12196526	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs12196649	0.85[CHB][hapmap]
rs12196670	0.85[CHB][hapmap]
rs12196709	0.85[CHB][hapmap]
rs12196860	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs12197951	0.85[CHB][hapmap]
rs12201286	0.85[CHB][hapmap]
rs12201413	0.82[CHB][hapmap]
rs12201531	0.85[CHB][hapmap]
rs12203653	0.85[CHB][hapmap]
rs12203768	0.85[CHB][hapmap]
rs12205653	0.85[CHB][hapmap]
rs12206920	0.85[CHB][hapmap]
rs12207120	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs12207662	0.85[CHB][hapmap]
rs12207665	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs12207715	0.85[CHB][hapmap]
rs12207719	0.85[CHB][hapmap]
rs12208500	0.85[CHB][hapmap]
rs12208615	0.85[CHB][hapmap]
rs12208823	0.85[CHB][hapmap]
rs12208954	0.85[CHB][hapmap]
rs12209003	0.85[CHB][hapmap]
rs12209420	0.85[CHB][hapmap]
rs12209529	0.85[CHB][hapmap]
rs12210228	0.85[CHB][hapmap]
rs12210402	0.85[CHB][hapmap]
rs12211223	0.85[CHB][hapmap]
rs12212135	0.85[CHB][hapmap]
rs12212143	0.85[CHB][hapmap]
rs12212998	0.85[CHB][hapmap]
rs12213291	0.82[CHB][hapmap]
rs12213571	0.85[CHB][hapmap]
rs12214594	0.85[CHB][hapmap]
rs12214662	0.85[CHB][hapmap]
rs12215913	0.85[CHB][hapmap]
rs12216538	0.85[CHB][hapmap]
rs1555095	0.85[CHB][hapmap];0.83[GIH][hapmap]
rs1555096	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs16887614	0.91[EUR][1000 genomes]
rs16887615	1.00[CEU][hapmap];0.80[JPT][hapmap];0.91[EUR][1000 genomes]
rs17218267	0.85[CHB][hapmap]
rs17218309	0.85[CHB][hapmap]
rs17218770	0.85[CHB][hapmap]
rs17219028	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs17219063	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs17219126	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17219382	0.84[GIH][hapmap]
rs17221026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17683841	0.85[CHB][hapmap]
rs17683846	0.85[CHB][hapmap]
rs17683955	0.85[CHB][hapmap]
rs17751067	0.85[CHB][hapmap]
rs17751085	0.85[CHB][hapmap]
rs17751114	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap]
rs17751143	0.85[CHB][hapmap]
rs17817455	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap]
rs17817730	0.85[CHB][hapmap]
rs17818151	0.85[CHB][hapmap]
rs17818561	0.85[CHB][hapmap]
rs17818687	0.82[CHB][hapmap]
rs17819585	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17819753	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17819824	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1925178	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs2076474	0.82[CHB][hapmap]
rs2076475	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2143359	1.00[ASW][hapmap];0.87[CEU][hapmap];0.85[CHB][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2840992	0.90[EUR][1000 genomes]
rs35471617	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3950155	0.85[CHB][hapmap]
rs41464152	0.85[CHB][hapmap];0.84[GIH][hapmap]
rs4295483	0.85[CHB][hapmap]
rs4295484	0.85[CHB][hapmap]
rs4336432	0.85[CHB][hapmap]
rs4388288	0.85[CHB][hapmap]
rs4469280	0.85[CHB][hapmap]
rs4482975	0.85[CHB][hapmap]
rs4544908	0.85[CHB][hapmap]
rs57122743	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59186267	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60913237	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7450492	0.85[CHB][hapmap]
rs763966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56082200-56104800	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:56092600-56099800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:56092600-56100000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:56093000-56100000	Weak transcription	Osteobl	bone
5	chr6:56096400-56099400	Weak transcription	Fetal Stomach	stomach
6	chr6:56096400-56099800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:56096400-56099800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:56096400-56099800	Weak transcription	A549	lung
9	chr6:56096400-56100000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:56096600-56105400	Weak transcription	Psoas Muscle	Psoas
11	chr6:56097800-56099400	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:56097800-56099400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:56097800-56099800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:56097800-56105400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:56098000-56099400	Weak transcription	Aorta	Aorta
16	chr6:56098000-56100000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:56098000-56106200	Weak transcription	Fetal Lung	lung

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