Variant report

Variant	rs1997880
Chromosome Location	chr20:22778325-22778326
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22710759..22713197-chr20:22776694..22778472,2	MCF-7	breast:
2	chr20:22774202..22776469-chr20:22777682..22779522,2	MCF-7	breast:
3	chr20:22778208..22779961-chr20:22785655..22787174,2	MCF-7	breast:
4	chr20:22776919..22778852-chr20:22779074..22780596,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2424462	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2424463	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2424467	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2424471	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424472	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2424474	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424477	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424478	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4813469	0.83[AMR][1000 genomes]
rs4815142	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048344	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6082809	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6082843	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6113805	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6132546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs932466	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22772000-22778600	Enhancers	HMEC	breast
2	chr20:22774200-22778600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:22774200-22778600	Enhancers	Fetal Muscle Leg	muscle
4	chr20:22774200-22778600	Enhancers	HUVEC	blood vessel
5	chr20:22774400-22778400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:22774800-22778800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:22774800-22779000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:22774800-22779000	Enhancers	NHEK	skin
9	chr20:22775400-22778600	Enhancers	Spleen	Spleen
10	chr20:22776000-22778600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr20:22776400-22779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr20:22776400-22780800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr20:22776400-22785800	Weak transcription	Right Atrium	heart
14	chr20:22776600-22781400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr20:22776600-22781400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:22777000-22781400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr20:22777400-22778400	Weak transcription	Placenta	Placenta
18	chr20:22777400-22782400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr20:22777600-22778400	Weak transcription	Gastric	stomach
20	chr20:22777600-22780000	Weak transcription	HSMMtube	muscle
21	chr20:22777600-22781000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr20:22777600-22782800	Weak transcription	Aorta	Aorta
23	chr20:22778000-22778800	Enhancers	Lung	lung
24	chr20:22778200-22780400	Weak transcription	A549	lung
25	chr20:22778200-22780400	Weak transcription	HSMM	muscle
26	chr20:22778200-22782000	Weak transcription	NHLF	lung

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