Variant report

Variant	rs6074217
Chromosome Location	chr20:10963675-10963676
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr20:10963192-10963838	SK-N-SH	brain:	n/a	chr20:10963389-10963402 chr20:10963808-10963819
2	MAFK	chr20:10963578-10963766	HepG2	liver:	n/a	n/a
3	EP300	chr20:10963166-10963719	SK-N-SH	brain:	n/a	n/a
4	MAFF	chr20:10963577-10963761	HepG2	liver:	n/a	n/a
5	POLR2A	chr20:10963396-10963826	H1-neurons	neurons:	n/a	n/a
6	PBX3	chr20:10963189-10963752	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr20:10963298-10963743	ECC-1	luminal epithelium:	n/a	n/a
8	GATA3	chr20:10963132-10963845	SK-N-SH	brain:	n/a	chr20:10963389-10963402 chr20:10963808-10963819
9	MAFK	chr20:10963385-10963812	IMR90	lung:	n/a	n/a
10	TCF12	chr20:10963198-10963869	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr20:10963199-10963765	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr20:10963067-10963868	SK-N-SH	brain:	n/a	n/a
13	MAFK	chr20:10963621-10963714	HepG2	liver:	n/a	n/a
14	FOSL2	chr20:10963159-10963692	SK-N-SH	brain:	n/a	n/a
15	CEBPB	chr20:10962978-10963711	IMR90	lung:	n/a	n/a
16	RAD21	chr20:10963264-10963716	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000270792	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3949863	0.84[EUR][1000 genomes]
rs6074221	0.86[EUR][1000 genomes]
rs6077987	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6077995	0.84[EUR][1000 genomes]
rs6077997	0.84[EUR][1000 genomes]
rs6134088	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62185667	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62185670	0.86[EUR][1000 genomes]
rs68076795	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7262797	0.84[EUR][1000 genomes]
rs73604352	0.89[ASN][1000 genomes]
rs73606412	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv912663	chr20:10891798-10963675	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758513	chr20:10892138-11116725	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758781	chr20:10892138-11116725	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv912664	chr20:10907037-10963675	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6074217	MKKS	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10959000-10964800	Weak transcription	Left Ventricle	heart
2	chr20:10959400-10964800	Weak transcription	NHEK	skin
3	chr20:10960000-10964800	Weak transcription	Psoas Muscle	Psoas
4	chr20:10960000-10965800	Weak transcription	HMEC	breast
5	chr20:10960400-10964800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:10962200-10964200	Enhancers	HSMM	muscle
7	chr20:10962400-10964000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr20:10962400-10964200	Enhancers	Fetal Heart	heart
9	chr20:10962600-10963800	Enhancers	Colon Smooth Muscle	Colon
10	chr20:10962600-10964000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr20:10962600-10964200	Enhancers	HSMMtube	muscle
12	chr20:10962800-10964000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr20:10963000-10963800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:10963000-10963800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:10963000-10963800	Enhancers	Rectal Smooth Muscle	rectum
16	chr20:10963000-10964000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr20:10963000-10964000	Active TSS	Aorta	Aorta
18	chr20:10963000-10964000	Enhancers	A549	lung
19	chr20:10963000-10964000	Enhancers	NH-A	brain
20	chr20:10963000-10964000	Enhancers	NHLF	lung
21	chr20:10963000-10964000	Enhancers	Osteobl	bone
22	chr20:10963000-10964800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr20:10963200-10963800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr20:10963200-10963800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr20:10963200-10963800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr20:10963200-10963800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr20:10963200-10963800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr20:10963200-10963800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr20:10963200-10963800	Enhancers	Fetal Lung	lung
30	chr20:10963200-10963800	Enhancers	Ovary	ovary
31	chr20:10963200-10963800	Enhancers	Right Atrium	heart
32	chr20:10963200-10964000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr20:10963200-10964000	Enhancers	NHDF-Ad	bronchial
34	chr20:10963200-10964200	Enhancers	Fetal Stomach	stomach
35	chr20:10963200-10965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr20:10963400-10963800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:10963400-10963800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr20:10963400-10963800	Enhancers	Fetal Kidney	kidney
39	chr20:10963400-10963800	Active TSS	Stomach Smooth Muscle	stomach
40	chr20:10963400-10964000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr20:10963400-10966000	Enhancers	Fetal Muscle Leg	muscle
42	chr20:10963400-10968000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:10963600-10963800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr20:10963600-10964000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr20:10963600-10965200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr20:10963600-10967000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr20:10963600-10967200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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