Variant report

Variant	rs6082846
Chromosome Location	chr20:22781433-22781434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11087400	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11087401	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11907115	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17828161	0.84[CHB][hapmap]
rs2207170	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4815148	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6048361	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6048364	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048372	0.94[EUR][1000 genomes]
rs6082852	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6082855	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6082860	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs730409	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs742850	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs932467	0.92[EUR][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	chr20:22777400-22782400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:22777600-22782800	Weak transcription	Aorta	Aorta
4	chr20:22778200-22782000	Weak transcription	NHLF	lung
5	chr20:22778400-22782000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:22778600-22782800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:22778600-22786200	Weak transcription	Gastric	stomach
8	chr20:22778800-22781600	Weak transcription	Lung	lung
9	chr20:22779000-22783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:22780000-22781600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:22780400-22781800	Enhancers	A549	lung
12	chr20:22780400-22783400	Enhancers	HSMM	muscle
13	chr20:22780400-22784400	Enhancers	Fetal Muscle Leg	muscle
14	chr20:22780600-22782600	Enhancers	Fetal Heart	heart
15	chr20:22780800-22783400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr20:22781000-22782200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr20:22781000-22782400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr20:22781000-22782600	Enhancers	Placenta	Placenta
19	chr20:22781000-22783000	Weak transcription	NHEK	skin
20	chr20:22781200-22782800	Weak transcription	HMEC	breast
21	chr20:22781200-22783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:22781400-22781600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr20:22781400-22781800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr20:22781400-22781800	Flanking Active TSS	HSMMtube	muscle
25	chr20:22781400-22782200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:22781400-22782200	Enhancers	Fetal Muscle Trunk	muscle
27	chr20:22781400-22782400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr20:22781400-22782600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr20:22781400-22782600	Enhancers	Fetal Lung	lung
30	chr20:22781400-22783400	Enhancers	H1 Cell Line	embryonic stem cell

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