Variant report

Variant	rs74066451
Chromosome Location	chr12:20630202-20630203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10841526	1.00[ASN][1000 genomes]
rs11045254	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609734	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12313679	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313682	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55716363	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55848999	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186852	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56293460	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56378963	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59843471	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61453719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066420	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066450	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485410	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv557701	chr12:20614024-20643574	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
2	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
3	chr12:20623200-20635200	Weak transcription	Fetal Intestine Large	intestine
4	chr12:20627800-20635600	Weak transcription	Hela-S3	cervix
5	chr12:20628600-20644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:20628800-20630400	Weak transcription	Right Atrium	heart
7	chr12:20628800-20631400	Enhancers	NHDF-Ad	bronchial
8	chr12:20628800-20633000	Weak transcription	Left Ventricle	heart
9	chr12:20628800-20636800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:20629000-20630800	Weak transcription	Ovary	ovary
11	chr12:20629000-20635200	Weak transcription	Fetal Intestine Small	intestine
12	chr12:20629200-20640200	Weak transcription	NHLF	lung
13	chr12:20629600-20631200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:20629600-20631600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:20629800-20630400	Active TSS	Fetal Brain Male	brain
16	chr12:20629800-20630600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:20629800-20631600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:20630000-20630400	Enhancers	Fetal Brain Female	brain
19	chr12:20630000-20630800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr12:20630000-20630800	Active TSS	Aorta	Aorta
21	chr12:20630000-20630800	Enhancers	Colon Smooth Muscle	Colon
22	chr12:20630000-20630800	Enhancers	Rectal Smooth Muscle	rectum
23	chr12:20630200-20630400	Flanking Active TSS	Fetal Lung	lung
24	chr12:20630200-20630600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:20630200-20633000	Weak transcription	Osteobl	bone

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