Variant report

Variant	rs57197545
Chromosome Location	chr17:66779443-66779444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11867173	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11867232	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11869086	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11871523	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16967199	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16967205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16967208	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973309	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16973316	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58039149	0.82[EUR][1000 genomes]
rs60553909	0.82[EUR][1000 genomes]
rs6501742	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6501758	0.82[EUR][1000 genomes]
rs6501759	0.84[EUR][1000 genomes]
rs68139244	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7211767	0.82[EUR][1000 genomes]
rs7211958	0.82[EUR][1000 genomes]
rs7215386	0.82[EUR][1000 genomes]
rs7218023	0.82[EUR][1000 genomes]
rs7223634	0.82[EUR][1000 genomes]
rs72631340	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72631341	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72851039	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8069179	0.89[EUR][1000 genomes]
rs8070117	0.82[EUR][1000 genomes]
rs8070228	0.82[EUR][1000 genomes]
rs8078115	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9889514	0.82[EUR][1000 genomes]
rs9889534	0.82[EUR][1000 genomes]
rs9891717	0.82[EUR][1000 genomes]
rs9895298	0.82[EUR][1000 genomes]
rs9911308	0.81[EUR][1000 genomes]
rs9911809	0.82[EUR][1000 genomes]
rs9912257	0.82[EUR][1000 genomes]
rs9916699	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66768600-66789200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:66773200-66780000	Weak transcription	Ovary	ovary
3	chr17:66774800-66779600	Weak transcription	Psoas Muscle	Psoas
4	chr17:66774800-66780000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:66774800-66780000	Weak transcription	Placenta	Placenta
6	chr17:66774800-66780000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr17:66774800-66780000	Weak transcription	NHLF	lung
8	chr17:66775000-66780000	Weak transcription	Fetal Lung	lung
9	chr17:66775000-66780000	Weak transcription	Right Atrium	heart
10	chr17:66775000-66781800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr17:66775200-66780000	Weak transcription	Fetal Intestine Large	intestine
12	chr17:66776200-66779800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:66778400-66780800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:66778600-66780400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:66778800-66780600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:66778800-66781200	Enhancers	HSMMtube	muscle
17	chr17:66779000-66780200	Enhancers	Osteobl	bone
18	chr17:66779000-66780600	Enhancers	Fetal Muscle Leg	muscle
19	chr17:66779000-66780800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:66779200-66779600	Weak transcription	NHDF-Ad	bronchial
21	chr17:66779200-66780000	Weak transcription	Brain Angular Gyrus	brain
22	chr17:66779200-66780400	Enhancers	HSMM	muscle
23	chr17:66779200-66780800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:66779400-66780200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:66779400-66781000	Enhancers	Adipose Nuclei	Adipose

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