Variant report

Variant	rs74130966
Chromosome Location	chr1:193325254-193325255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16835301	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056062	0.88[AFR][1000 genomes]
rs56238040	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57648443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57963089	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60899083	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61090037	1.00[AMR][1000 genomes]
rs6428164	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659189	0.84[AFR][1000 genomes]
rs6662220	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681856	1.00[AMR][1000 genomes]
rs6701516	1.00[AMR][1000 genomes]
rs74130949	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130951	1.00[AMR][1000 genomes]
rs74130952	1.00[AMR][1000 genomes]
rs74130953	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130956	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130958	1.00[AMR][1000 genomes]
rs74130959	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130965	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538857	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541789	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542739	0.97[AFR][1000 genomes];1.00[AMR][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	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 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	chr1:193318600-193325400	Weak transcription	HSMM	muscle
2	chr1:193320000-193325400	Weak transcription	HSMMtube	muscle
3	chr1:193323400-193325400	Enhancers	Stomach Mucosa	stomach
4	chr1:193323800-193325600	Enhancers	Fetal Intestine Large	intestine
5	chr1:193323800-193325600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:193324000-193325600	Enhancers	Fetal Intestine Small	intestine
7	chr1:193324600-193326400	Enhancers	Left Ventricle	heart
8	chr1:193324800-193325400	Enhancers	Right Atrium	heart
9	chr1:193324800-193325600	Enhancers	Colonic Mucosa	Colon
10	chr1:193324800-193325600	Enhancers	Pancreas	Pancrea
11	chr1:193324800-193326400	Enhancers	Psoas Muscle	Psoas
12	chr1:193324800-193326400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:193325000-193326400	Enhancers	Fetal Heart	heart
14	chr1:193325000-193326400	Strong transcription	Fetal Lung	lung
15	chr1:193325200-193325600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:193325200-193326400	Enhancers	Fetal Muscle Leg	muscle
17	chr1:193325200-193326400	Enhancers	Skeletal Muscle Male	skeletal muscle

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