Variant report

Variant	rs8115044
Chromosome Location	chr20:22781262-22781263
allele	A/C
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	1.00[ASN][1000 genomes]
rs11906305	0.98[ASN][1000 genomes]
rs11907807	1.00[ASN][1000 genomes]
rs11907812	1.00[ASN][1000 genomes]
rs11907997	0.90[ASN][1000 genomes]
rs11908016	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs16984513	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16984521	0.90[ASN][1000 genomes]
rs17828161	0.94[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2404447	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4815146	0.90[ASN][1000 genomes]
rs4815147	0.90[ASN][1000 genomes]
rs58318417	0.98[ASN][1000 genomes]
rs58342337	1.00[ASN][1000 genomes]
rs61346306	0.90[ASN][1000 genomes]
rs7267722	0.90[ASN][1000 genomes]
rs7268645	0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7272134	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7272287	0.90[ASN][1000 genomes]
rs7274781	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73093728	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22776400-22785800	Weak transcription	Right Atrium	heart
2	chr20:22776600-22781400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr20:22776600-22781400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:22777000-22781400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr20:22777400-22782400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:22777600-22782800	Weak transcription	Aorta	Aorta
7	chr20:22778200-22782000	Weak transcription	NHLF	lung
8	chr20:22778400-22782000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:22778600-22781400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr20:22778600-22782800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:22778600-22786200	Weak transcription	Gastric	stomach
12	chr20:22778800-22781600	Weak transcription	Lung	lung
13	chr20:22779000-22783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:22780000-22781400	Enhancers	HSMMtube	muscle
15	chr20:22780000-22781600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:22780400-22781800	Enhancers	A549	lung
17	chr20:22780400-22783400	Enhancers	HSMM	muscle
18	chr20:22780400-22784400	Enhancers	Fetal Muscle Leg	muscle
19	chr20:22780600-22782600	Enhancers	Fetal Heart	heart
20	chr20:22780800-22781400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr20:22780800-22783400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:22781000-22781400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr20:22781000-22781400	Bivalent Enhancer	Left Ventricle	heart
24	chr20:22781000-22782200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr20:22781000-22782400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:22781000-22782600	Enhancers	Placenta	Placenta
27	chr20:22781000-22783000	Weak transcription	NHEK	skin
28	chr20:22781200-22782800	Weak transcription	HMEC	breast
29	chr20:22781200-22783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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