Variant report

Variant	rs61790555
Chromosome Location	chr4:19811652-19811653
allele	A/C
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	PBX3	chr4:19811602-19812263	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr4:19811550-19812145	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr4:19811626-19812001	HUVEC	blood vessel:	n/a	chr4:19811790-19811797 chr4:19811790-19811799 chr4:19811828-19811835 chr4:19811785-19811799 chr4:19811790-19811797 chr4:19811828-19811835 chr4:19811789-19811799 chr4:19811828-19811835 chr4:19811790-19811797 chr4:19811783-19811804
4	JUND	chr4:19811573-19812085	SK-N-SH	brain:	n/a	n/a
5	KAP1	chr4:19811632-19812082	U2OS	brain:	n/a	n/a
6	GATA3	chr4:19811439-19812294	SK-N-SH	brain:	n/a	chr4:19811790-19811797 chr4:19811790-19811799 chr4:19811828-19811835 chr4:19811827-19811835 chr4:19811790-19811797 chr4:19811828-19811835 chr4:19811789-19811797 chr4:19811789-19811799 chr4:19811828-19811835 chr4:19811790-19811797 chr4:19811783-19811804
7	PBX3	chr4:19811637-19812125	SK-N-SH	brain:	n/a	n/a
8	NFIC	chr4:19811565-19812016	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr4:19811536-19812210	SK-N-SH	brain:	n/a	n/a
10	GATA2	chr4:19811640-19812003	SH-SY5Y	brain:	n/a	chr4:19811790-19811797 chr4:19811790-19811799 chr4:19811828-19811835 chr4:19811785-19811799 chr4:19811790-19811797 chr4:19811828-19811835 chr4:19811789-19811799 chr4:19811828-19811835 chr4:19811790-19811797 chr4:19811783-19811804
11	GATA3	chr4:19811415-19812274	SK-N-SH	brain:	n/a	chr4:19811790-19811797 chr4:19811790-19811799 chr4:19811828-19811835 chr4:19811827-19811835 chr4:19811790-19811797 chr4:19811828-19811835 chr4:19811789-19811797 chr4:19811789-19811799 chr4:19811828-19811835 chr4:19811790-19811797 chr4:19811783-19811804
12	GATA3	chr4:19811557-19811966	MCF-7	breast:	n/a	chr4:19811790-19811797 chr4:19811790-19811799 chr4:19811828-19811835 chr4:19811827-19811835 chr4:19811790-19811797 chr4:19811828-19811835 chr4:19811789-19811797 chr4:19811789-19811799 chr4:19811828-19811835 chr4:19811790-19811797 chr4:19811783-19811804

Variant related genes	Relation type
ENSG00000241612	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16868686	0.92[ASN][1000 genomes]
rs16868702	0.84[ASN][1000 genomes]
rs16868779	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17569535	0.92[ASN][1000 genomes]
rs28484795	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3935063	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3935613	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4511994	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61790552	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790553	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62295088	0.92[ASN][1000 genomes]
rs62295089	0.92[ASN][1000 genomes]
rs62295092	0.92[ASN][1000 genomes]
rs62295093	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62295094	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62295096	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62295097	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62295103	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62295105	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62295106	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62295109	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62295136	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62295149	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62295150	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62295152	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62295155	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62295156	0.90[EUR][1000 genomes]
rs62295158	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62295159	0.89[EUR][1000 genomes]
rs62296084	0.92[ASN][1000 genomes]
rs62296260	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62296267	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62296884	0.92[ASN][1000 genomes]
rs62296886	0.92[ASN][1000 genomes]
rs62296888	0.92[ASN][1000 genomes]
rs7673978	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878733	chr4:19335464-19928602	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv529290	chr4:19658583-20173839	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv593790	chr4:19740879-20142039	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1009938	chr4:19787648-19848997	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1001635	chr4:19787648-19854388	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2752044	chr4:19788263-20126804	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv878735	chr4:19810878-19933069	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19809400-19813600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:19809800-19811800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:19810000-19811800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:19810800-19812000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:19811000-19812200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:19811400-19829200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:19811600-19812000	Weak transcription	Fetal Lung	lung
8	chr4:19811600-19812400	Enhancers	Placenta Amnion	Placenta Amnion

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