Variant report

Variant	rs73419715
Chromosome Location	chr9:14927192-14927193
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	TEAD4	chr9:14926999-14927391	K562	blood:	n/a	n/a
2	EP300	chr9:14926969-14927293	SK-N-SH_RA	brain:	n/a	n/a
3	MAFF	chr9:14927159-14927675	K562	blood:	n/a	n/a
4	CCNT2	chr9:14926887-14927432	K562	blood:	n/a	n/a
5	MYC	chr9:14926832-14927486	K562	blood:	n/a	n/a
6	RAD21	chr9:14927180-14927509	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr9:14926550-14928019	SK-N-SH	brain:	n/a	chr9:14927964-14927971
8	GATA3	chr9:14927179-14927769	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr9:14927165-14927719	H1-neurons	neurons:	n/a	n/a
10	RCOR1	chr9:14927018-14927450	K562	blood:	n/a	n/a
11	TEAD4	chr9:14926975-14927369	K562	blood:	n/a	n/a
12	TAL1	chr9:14926935-14927444	K562	blood:	n/a	n/a
13	POLR2A	chr9:14927040-14927310	K562	blood:	n/a	n/a
14	GATA3	chr9:14926986-14927770	SK-N-SH	brain:	n/a	n/a
15	FOXP2	chr9:14927127-14927684	SK-N-MC	brain:	n/a	n/a
16	JUND	chr9:14927109-14927465	K562	blood:	n/a	n/a
17	EP300	chr9:14926903-14927705	SK-N-SH_RA	brain:	n/a	n/a
18	GATA1	chr9:14926734-14927957	PBDE	blood:	n/a	n/a
19	GATA2	chr9:14926954-14927555	SH-SY5Y	brain:	n/a	n/a
20	POLR2A	chr9:14927081-14927871	SK-N-MC	brain:	n/a	n/a
21	GATA1	chr9:14927088-14927323	PBDEFetal	blood:	n/a	n/a
22	POLR2A	chr9:14926976-14927875	SK-N-MC	brain:	n/a	n/a
23	ATF1	chr9:14926973-14927434	K562	blood:	n/a	n/a
24	EP300	chr9:14926969-14927569	K562	blood:	n/a	n/a

Variant related genes	Relation type
LDHAP4	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10961790	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12002382	0.98[ASN][1000 genomes]
rs59947970	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60446733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60982740	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61521834	1.00[AFR][1000 genomes]
rs73417693	0.86[AFR][1000 genomes]
rs73642461	0.95[ASN][1000 genomes]
rs73642463	0.98[ASN][1000 genomes]
rs73642464	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7870510	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831518	chr9:14760638-14953501	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv613647	chr9:14852141-15016475	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	4 gene(s)	inside rSNPs	diseases
5	nsv892620	chr9:14922877-15086021	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14920600-14935200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:14925000-14927600	Enhancers	Primary hematopoietic stem cells	blood
3	chr9:14925200-14945400	Weak transcription	Aorta	Aorta
4	chr9:14925600-14927400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:14925600-14928600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:14926000-14928800	Enhancers	Fetal Heart	heart
7	chr9:14926200-14927800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:14926200-14928800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:14926600-14927200	Enhancers	Fetal Stomach	stomach
10	chr9:14926600-14927200	Enhancers	Spleen	Spleen
11	chr9:14926600-14927400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:14926600-14927600	Enhancers	K562	blood
13	chr9:14926800-14927400	Enhancers	Fetal Kidney	kidney
14	chr9:14927000-14927400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:14927000-14927400	Flanking Active TSS	Fetal Lung	lung
16	chr9:14927000-14927400	Enhancers	Gastric	stomach
17	chr9:14927000-14927600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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