Variant report

Variant	rs4813469
Chromosome Location	chr20:22779197-22779198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1997880	0.83[AMR][1000 genomes]
rs2424478	0.81[AMR][1000 genomes]
rs6048344	0.82[AMR][1000 genomes]
rs6082843	0.84[AMR][1000 genomes]
rs6132546	0.83[AMR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4813469	GINS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22776400-22779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:22776400-22780800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr20:22776400-22785800	Weak transcription	Right Atrium	heart
4	chr20:22776600-22781400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr20:22776600-22781400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:22777000-22781400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr20:22777400-22782400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr20:22777600-22780000	Weak transcription	HSMMtube	muscle
9	chr20:22777600-22781000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr20:22777600-22782800	Weak transcription	Aorta	Aorta
11	chr20:22778200-22780400	Weak transcription	A549	lung
12	chr20:22778200-22780400	Weak transcription	HSMM	muscle
13	chr20:22778200-22782000	Weak transcription	NHLF	lung
14	chr20:22778400-22782000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr20:22778600-22779200	Weak transcription	Spleen	Spleen
16	chr20:22778600-22780400	Weak transcription	Fetal Muscle Leg	muscle
17	chr20:22778600-22780800	Weak transcription	HMEC	breast
18	chr20:22778600-22781400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr20:22778600-22782800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr20:22778600-22786200	Weak transcription	Gastric	stomach
21	chr20:22778800-22780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:22778800-22781000	Weak transcription	Placenta	Placenta
23	chr20:22778800-22781600	Weak transcription	Lung	lung
24	chr20:22779000-22780600	Weak transcription	NHEK	skin
25	chr20:22779000-22783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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