Variant report

Variant	rs3857568
Chromosome Location	chr6:37624284-37624285
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37623883..37625682-chr6:37627953..37629505,2	K562	blood:
2	chr6:37618601..37620441-chr6:37621823..37624720,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10807186	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198513	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13199974	0.93[ASN][1000 genomes]
rs13203140	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13204070	0.96[ASN][1000 genomes]
rs13212859	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738456	0.96[ASN][1000 genomes]
rs1883899	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1883900	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273109	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2273110	0.96[ASN][1000 genomes]
rs3846873	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3846874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846876	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846879	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3857567	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3857570	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3857571	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236056	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4357132	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711509	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6906090	0.96[ASN][1000 genomes]
rs6930085	0.96[ASN][1000 genomes]
rs708020	0.96[ASN][1000 genomes]
rs708021	0.96[ASN][1000 genomes]
rs708022	0.96[ASN][1000 genomes]
rs7452633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7452676	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7452692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761413	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7775837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804816	0.96[ASN][1000 genomes]
rs804817	0.98[ASN][1000 genomes]
rs813079	0.98[ASN][1000 genomes]
rs9366945	0.94[ASN][1000 genomes]
rs9369015	0.96[ASN][1000 genomes]
rs9394447	0.93[ASN][1000 genomes]
rs9462343	0.96[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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3857568	MDGA1	cis	Esophagus Mucosa	GTEx
rs3857568	MDGA1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37618200-37631600	Weak transcription	Gastric	stomach
2	chr6:37620200-37632200	Weak transcription	Right Atrium	heart
3	chr6:37621200-37627400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:37621400-37630800	Weak transcription	Brain Angular Gyrus	brain
5	chr6:37621400-37630800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:37621600-37631400	Weak transcription	Fetal Brain Male	brain
7	chr6:37622200-37630800	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:37622200-37630800	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:37622400-37625000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:37622400-37632400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:37622400-37633000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:37622600-37625000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:37622600-37627600	Weak transcription	Fetal Brain Female	brain
14	chr6:37622600-37630600	Weak transcription	NHLF	lung
15	chr6:37622800-37625200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:37622800-37625800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:37623000-37625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:37623000-37625200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:37623200-37624800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:37623200-37625000	Weak transcription	Osteobl	bone
21	chr6:37623200-37625200	Weak transcription	Aorta	Aorta
22	chr6:37623200-37626000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:37623200-37626600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:37623200-37626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:37623400-37628800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:37623800-37625000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:37623800-37625200	Weak transcription	Ovary	ovary
28	chr6:37623800-37626600	Strong transcription	Fetal Stomach	stomach
29	chr6:37624000-37628800	Weak transcription	Colonic Mucosa	Colon

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