Variant report

Variant	rs11907807
Chromosome Location	chr20:22782521-22782522
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11905714	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11906305	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11907812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11907997	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11908016	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16984513	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16984521	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17828161	0.87[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2404447	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4815146	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4815147	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58318417	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58342337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61346306	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7267722	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7268645	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7272134	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7272287	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7274781	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73093728	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8115044	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv3334	chr20:22773462-22818362	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22776400-22785800	Weak transcription	Right Atrium	heart
2	chr20:22777600-22782800	Weak transcription	Aorta	Aorta
3	chr20:22778600-22782800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:22778600-22786200	Weak transcription	Gastric	stomach
5	chr20:22779000-22783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:22780400-22783400	Enhancers	HSMM	muscle
7	chr20:22780400-22784400	Enhancers	Fetal Muscle Leg	muscle
8	chr20:22780600-22782600	Enhancers	Fetal Heart	heart
9	chr20:22780800-22783400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr20:22781000-22782600	Enhancers	Placenta	Placenta
11	chr20:22781000-22783000	Weak transcription	NHEK	skin
12	chr20:22781200-22782800	Weak transcription	HMEC	breast
13	chr20:22781200-22783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:22781400-22782600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr20:22781400-22782600	Enhancers	Fetal Lung	lung
16	chr20:22781400-22783400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr20:22781600-22782800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr20:22781600-22783400	Enhancers	Lung	lung
19	chr20:22781800-22783000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr20:22781800-22785400	Weak transcription	A549	lung
21	chr20:22781800-22786400	Enhancers	HSMMtube	muscle
22	chr20:22782000-22782600	Bivalent Enhancer	NHDF-Ad	bronchial
23	chr20:22782000-22782800	Enhancers	Brain Germinal Matrix	brain
24	chr20:22782000-22789000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr20:22782200-22783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:22782200-22783000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr20:22782200-22790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr20:22782400-22782600	Bivalent Enhancer	NHLF	lung
29	chr20:22782400-22782800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:22782400-22783600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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