Variant report

Variant	rs17055854
Chromosome Location	chr6:128745590-128745591
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10428737	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11965122	1.00[GIH][hapmap]
rs11966128	0.87[GIH][hapmap]
rs12110431	0.92[AFR][1000 genomes]
rs1339193	1.00[CEU][hapmap]
rs1612415	0.84[CEU][hapmap]
rs17055564	0.87[GIH][hapmap]
rs17055611	0.87[GIH][hapmap]
rs17055612	0.87[GIH][hapmap]
rs17055617	0.87[GIH][hapmap]
rs17055619	0.87[GIH][hapmap]
rs17055717	0.87[GIH][hapmap]
rs17055719	0.87[GIH][hapmap]
rs17343887	0.85[GIH][hapmap]
rs17361665	0.87[EUR][1000 genomes]
rs17456385	0.87[GIH][hapmap]
rs17456601	0.87[GIH][hapmap]
rs17459362	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1891146	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1891147	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1891148	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2027311	0.87[GIH][hapmap];0.85[MEX][hapmap]
rs4466261	0.91[CEU][hapmap]
rs58395468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59893653	0.89[EUR][1000 genomes]
rs66843622	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6939023	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs722796	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974018	0.84[EUR][1000 genomes]
rs72974042	0.81[EUR][1000 genomes]
rs72974046	1.00[EUR][1000 genomes]
rs72974053	1.00[EUR][1000 genomes]
rs72974060	1.00[EUR][1000 genomes]
rs72974074	1.00[EUR][1000 genomes]
rs72974081	0.81[EUR][1000 genomes]
rs7748155	0.94[ASW][hapmap];0.83[YRI][hapmap]
rs7764930	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.80[YRI][hapmap]
rs7773248	0.87[GIH][hapmap]
rs7774606	0.96[AFR][1000 genomes]
rs9321114	0.87[GIH][hapmap];0.85[MEX][hapmap]
rs9375562	0.85[MEX][hapmap]
rs9375564	0.90[AFR][1000 genomes]
rs9402035	1.00[CHD][hapmap];0.85[MEX][hapmap];0.93[YRI][hapmap]
rs946424	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs953549	0.92[CEU][hapmap]
rs961292	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128728800-128748000	Weak transcription	Ovary	ovary
2	chr6:128731000-128753400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:128732400-128752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:128734200-128748400	Weak transcription	Gastric	stomach
5	chr6:128739600-128748400	Weak transcription	Psoas Muscle	Psoas
6	chr6:128739600-128748400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:128739600-128755600	Weak transcription	Osteobl	bone
8	chr6:128739800-128745800	Weak transcription	Aorta	Aorta
9	chr6:128739800-128748400	Weak transcription	Left Ventricle	heart
10	chr6:128739800-128762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:128740000-128752800	Weak transcription	NH-A	brain
12	chr6:128740000-128756000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:128740800-128777000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:128741800-128753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:128742000-128748200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:128743200-128748400	Weak transcription	Pancreas	Pancrea
17	chr6:128743200-128748400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:128743600-128747800	Weak transcription	Fetal Lung	lung
19	chr6:128743600-128752200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:128743600-128755200	Weak transcription	Brain Substantia Nigra	brain
21	chr6:128743600-128759400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:128743800-128747800	Weak transcription	Brain Anterior Caudate	brain
23	chr6:128743800-128748200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:128743800-128753400	Weak transcription	NHEK	skin
25	chr6:128743800-128756000	Weak transcription	Fetal Intestine Large	intestine
26	chr6:128744000-128745800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:128744200-128746800	Weak transcription	NHDF-Ad	bronchial
28	chr6:128744200-128748000	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:128744200-128754200	Weak transcription	Brain Angular Gyrus	brain
30	chr6:128744400-128747000	Weak transcription	Fetal Heart	heart
31	chr6:128744400-128755200	Weak transcription	HepG2	liver
32	chr6:128744600-128758800	Weak transcription	HSMM	muscle
33	chr6:128744800-128748200	Weak transcription	Right Atrium	heart
34	chr6:128744800-128748200	Weak transcription	HSMMtube	muscle
35	chr6:128745200-128746800	Weak transcription	Right Ventricle	heart

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