Variant report

Variant	rs73852394
Chromosome Location	chr3:110792453-110792454
allele	C/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	MYC	chr3:110792141-110792566	MCF10A-Er-Src	breast:	n/a	n/a
2	CHD1	chr3:110788894-110792602	IMR90	lung:	n/a	chr3:110790569-110790579 chr3:110791180-110791190
3	RAD21	chr3:110788763-110792538	IMR90	lung:	n/a	n/a
4	MXI1	chr3:110788792-110792832	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
PVRL3	TF binding region
PVRL3-AS1	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12185974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801650	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1824709	0.89[EUR][1000 genomes]
rs55987847	0.88[AFR][1000 genomes]
rs56324569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56724510	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58112872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61190717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61219682	0.81[AFR][1000 genomes]
rs6437943	0.83[EUR][1000 genomes]
rs73852350	0.88[AFR][1000 genomes]
rs73852352	0.88[AFR][1000 genomes]
rs73852384	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73852397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852401	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73852402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854903	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854905	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854910	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73854911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854920	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73854921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854923	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73854926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854928	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854929	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7616280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7622397	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642664	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9844779	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110788400-110793000	Active TSS	Brain Angular Gyrus	brain
2	chr3:110788600-110794200	Active TSS	Ovary	ovary
3	chr3:110788600-110794600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr3:110788800-110792600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:110788800-110792600	Active TSS	Rectal Smooth Muscle	rectum
6	chr3:110788800-110792600	Active TSS	Right Atrium	heart
7	chr3:110788800-110793200	Active TSS	Fetal Kidney	kidney
8	chr3:110788800-110794000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr3:110789000-110792600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:110789000-110792600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:110789000-110792800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr3:110789000-110793000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr3:110789000-110793000	Active TSS	Placenta Amnion	Placenta Amnion
14	chr3:110789000-110793200	Active TSS	Fetal Stomach	stomach
15	chr3:110789000-110793200	Active TSS	Stomach Smooth Muscle	stomach
16	chr3:110789000-110793400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr3:110789000-110793600	Active TSS	NHDF-Ad	bronchial
18	chr3:110789000-110793800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr3:110789000-110794200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:110789200-110792600	Active TSS	A549	lung
21	chr3:110789200-110792800	Active TSS	Aorta	Aorta
22	chr3:110789200-110793000	Active TSS	HSMM	muscle
23	chr3:110789200-110793200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:110789200-110793400	Active TSS	Fetal Intestine Large	intestine
25	chr3:110789200-110793600	Active TSS	Muscle Satellite Cultured Cells	--
26	chr3:110789200-110794200	Active TSS	NHLF	lung
27	chr3:110789200-110794800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:110789400-110792800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:110789400-110793000	Active TSS	HSMMtube	muscle
30	chr3:110789400-110794000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:110789600-110792600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr3:110789600-110793000	Active TSS	Colonic Mucosa	Colon
33	chr3:110789600-110794800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:110789800-110792800	Active TSS	Fetal Muscle Trunk	muscle
35	chr3:110791200-110792600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:110791200-110792600	Flanking Active TSS	Fetal Brain Male	brain
37	chr3:110791600-110792600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr3:110791600-110792800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:110791600-110792800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:110791600-110792800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr3:110791600-110792800	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr3:110791600-110793000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:110791600-110793000	Active TSS	Fetal Muscle Leg	muscle
44	chr3:110791800-110792600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:110791800-110792600	Flanking Active TSS	Hela-S3	cervix
46	chr3:110791800-110792800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr3:110791800-110792800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr3:110791800-110793000	Flanking Active TSS	Osteobl	bone
49	chr3:110791800-110793200	Active TSS	Fetal Intestine Small	intestine
50	chr3:110791800-110793400	Active TSS	Placenta	Placenta

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