Variant report

Variant	rs73556352
Chromosome Location	chr19:42934002-42934003
allele	A/G
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	MAFK	chr19:42933863-42934074	IMR90	lung:	n/a	n/a
2	MAFF	chr19:42933873-42934073	HepG2	liver:	n/a	n/a
3	MAFK	chr19:42933914-42934071	HepG2	liver:	n/a	n/a
4	MAFK	chr19:42933854-42934154	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42927664..42929374-chr19:42933125..42935489,2	K562	blood:
2	chr19:42927090..42929374-chr19:42933062..42935489,2	K562	blood:

Variant related genes	Relation type
ENSG00000268605	TF binding region
LIPE	TF binding region
ENSG00000268605	Chromatin interaction
ENSG00000079435	Chromatin interaction
ENSG00000213904	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10405891	1.00[EUR][1000 genomes]
rs10411253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414969	1.00[EUR][1000 genomes]
rs10416062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417560	1.00[EUR][1000 genomes]
rs10422000	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423047	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425139	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13345659	1.00[EUR][1000 genomes]
rs16975743	1.00[EUR][1000 genomes]
rs16975750	1.00[EUR][1000 genomes]
rs28448880	1.00[EUR][1000 genomes]
rs28514561	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35623577	1.00[EUR][1000 genomes]
rs7245385	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7248439	1.00[EUR][1000 genomes]
rs7251638	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252470	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254369	0.86[AFR][1000 genomes]
rs7254839	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255015	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556356	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102976	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8103108	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 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	chr19:42928600-42936600	Weak transcription	Right Atrium	heart
2	chr19:42928600-42936800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:42928600-42937000	Weak transcription	Brain Substantia Nigra	brain
4	chr19:42928800-42937200	Weak transcription	Lung	lung
5	chr19:42928800-42937400	Weak transcription	Stomach Mucosa	stomach
6	chr19:42928800-42937600	Weak transcription	Brain Germinal Matrix	brain
7	chr19:42928800-42937600	Weak transcription	Gastric	stomach
8	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
9	chr19:42929000-42937600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:42929400-42936600	Weak transcription	Right Ventricle	heart
11	chr19:42929400-42937000	Weak transcription	Fetal Intestine Small	intestine
12	chr19:42929400-42937400	Weak transcription	Spleen	Spleen
13	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:42931400-42937000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr19:42931600-42934600	Enhancers	Adipose Nuclei	Adipose
16	chr19:42931600-42936600	Weak transcription	Left Ventricle	heart
17	chr19:42931600-42937000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:42931600-42937200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:42931600-42937600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:42931800-42936800	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:42931800-42937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:42932600-42935000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:42932600-42937200	Weak transcription	Fetal Heart	heart
24	chr19:42932600-42937600	Weak transcription	Fetal Stomach	stomach
25	chr19:42933000-42936800	Weak transcription	Fetal Intestine Large	intestine
26	chr19:42933000-42937000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:42933000-42937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:42933200-42936200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:42933200-42937000	Weak transcription	Brain Anterior Caudate	brain
30	chr19:42933200-42937600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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