Variant report

Variant	rs73225937
Chromosome Location	chr13:76267691-76267692
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	GATA3	chr13:76267282-76267717	SH-SY5Y	brain:	n/a	n/a
2	GATA2	chr13:76267386-76267936	SH-SY5Y	brain:	n/a	chr13:76267813-76267823
3	GATA3	chr13:76267316-76267878	SK-N-SH	brain:	n/a	chr13:76267813-76267823

Variant related genes	Relation type
FAM204CP	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11843392	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13378446	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13378926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378927	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570554	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17064886	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28634531	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55634270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55677829	0.96[EUR][1000 genomes]
rs55912229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56312330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59605282	0.83[ASN][1000 genomes]
rs73225936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225945	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225951	0.96[EUR][1000 genomes]
rs73225954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986928	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991060	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000663	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318371	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544031	1.00[ASN][1000 genomes]
rs9565182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565183	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565185	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565187	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573613	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573614	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9573615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573616	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573617	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573619	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573621	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573622	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573623	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573624	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573629	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573631	0.83[ASN][1000 genomes]
rs9593119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593122	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600530	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
2	chr13:76259400-76273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:76259600-76269800	Weak transcription	Fetal Heart	heart
4	chr13:76259600-76294400	Weak transcription	Ovary	ovary
5	chr13:76259800-76274600	Weak transcription	Aorta	Aorta
6	chr13:76259800-76282200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:76260000-76271000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:76260200-76268800	Weak transcription	HMEC	breast
9	chr13:76260400-76279200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:76261000-76277600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:76262400-76278600	Weak transcription	Pancreas	Pancrea
12	chr13:76262600-76272000	Genic enhancers	Osteobl	bone
13	chr13:76265400-76269000	Enhancers	Fetal Brain Male	brain
14	chr13:76265600-76268000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:76265800-76268600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:76265800-76268600	Weak transcription	Fetal Intestine Small	intestine
17	chr13:76266200-76268600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:76266400-76268600	Weak transcription	Stomach Mucosa	stomach
19	chr13:76266400-76268800	Weak transcription	Hela-S3	cervix
20	chr13:76266400-76269400	Strong transcription	NHDF-Ad	bronchial
21	chr13:76266600-76271400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:76266800-76268200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:76266800-76269400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr13:76267000-76267800	Enhancers	Brain Germinal Matrix	brain
25	chr13:76267000-76268000	Enhancers	Fetal Thymus	thymus
26	chr13:76267000-76268000	Genic enhancers	HSMMtube	muscle
27	chr13:76267200-76267800	Enhancers	Fetal Brain Female	brain
28	chr13:76267200-76268000	Strong transcription	NHLF	lung
29	chr13:76267200-76271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr13:76267400-76268000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:76267400-76268200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:76267400-76268800	Strong transcription	NH-A	brain
33	chr13:76267400-76269400	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr13:76267400-76269400	Genic enhancers	HSMM	muscle
35	chr13:76267600-76268000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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