Variant report

Variant	rs56062008
Chromosome Location	chr9:97094721-97094722
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	NRF1	chr9:97094558-97094908	GM12878	blood:	n/a	chr9:97094759-97094770 chr9:97094721-97094732 chr9:97094721-97094732 chr9:97094723-97094732 chr9:97094721-97094735 chr9:97094744-97094753 chr9:97094718-97094732
2	MAX	chr9:97094552-97094812	K562	blood:	n/a	n/a
3	UBTF	chr9:97094701-97095150	K562	blood:	n/a	n/a
4	POLR2A	chr9:97094464-97095441	GM12891	blood:	n/a	n/a
5	POLR2A	chr9:97094569-97094798	K562	blood:	n/a	n/a
6	POU2F2	chr9:97094403-97095248	GM12891	blood:	n/a	n/a
7	HEY1	chr9:97094511-97095029	K562	blood:	n/a	n/a
8	POLR2A	chr9:97094520-97094880	GM12878	blood:	n/a	n/a
9	MYC	chr9:97094647-97094906	K562	blood:	n/a	n/a
10	MAX	chr9:97094570-97094771	K562	blood:	n/a	n/a
11	CCNT2	chr9:97094644-97094844	K562	blood:	n/a	n/a
12	POLR2A	chr9:97094610-97095380	GM12892	blood:	n/a	n/a
13	POLR2A	chr9:97094481-97094934	K562	blood:	n/a	n/a
14	YY1	chr9:97094595-97094798	GM12891	blood:	n/a	n/a
15	E2F6	chr9:97094467-97095149	K562	blood:	n/a	chr9:97094744-97094753 chr9:97094722-97094731
16	E2F6	chr9:97094575-97094800	K562	blood:	n/a	chr9:97094744-97094753 chr9:97094722-97094731
17	POU2F2	chr9:97094667-97095485	GM12878	blood:	n/a	n/a
18	YY1	chr9:97094572-97094797	K562	blood:	n/a	n/a
19	POLR2A	chr9:97094503-97095457	GM12891	blood:	n/a	n/a
20	NRF1	chr9:97094702-97094749	K562	blood:	n/a	chr9:97094721-97094732 chr9:97094721-97094732 chr9:97094723-97094732 chr9:97094721-97094735 chr9:97094718-97094732
21	HEY1	chr9:97094461-97095249	K562	blood:	n/a	n/a
22	POLR2A	chr9:97094529-97095317	GM12878	blood:	n/a	n/a
23	TCF3	chr9:97094558-97094938	GM12878	blood:	n/a	n/a
24	YY1	chr9:97094581-97094781	K562	blood:	n/a	n/a
25	TAF1	chr9:97094561-97094807	K562	blood:	n/a	n/a
26	E2F6	chr9:97094578-97094783	K562	blood:	n/a	chr9:97094744-97094753 chr9:97094722-97094731
27	POU2F2	chr9:97094551-97095467	GM12891	blood:	n/a	n/a
28	POLR2A	chr9:97094477-97095312	K562	blood:	n/a	n/a
29	CBX3	chr9:97094429-97094917	K562	blood:	n/a	n/a
30	POLR2A	chr9:97094499-97095080	GM12891	blood:	n/a	n/a
31	TBP	chr9:97094549-97094856	K562	blood:	n/a	n/a
32	MAZ	chr9:97094543-97094926	K562	blood:	n/a	n/a
33	POLR2A	chr9:97094536-97095300	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:97094526-97094994	GM12891	blood:	n/a	n/a
35	POLR2A	chr9:97094502-97095463	GM12878	blood:	n/a	n/a
36	POLR2A	chr9:97094603-97095501	GM12892	blood:	n/a	n/a
37	MAX	chr9:97094535-97094965	K562	blood:	n/a	n/a
38	GABPA	chr9:97094524-97094838	K562	blood:	n/a	chr9:97094721-97094732 chr9:97094723-97094732 chr9:97094721-97094735 chr9:97094744-97094753 chr9:97094718-97094732
39	POLR2A	chr9:97094557-97094804	K562	blood:	n/a	n/a
40	POLR2A	chr9:97094559-97094993	HUVEC	blood vessel:	n/a	n/a
41	ELF1	chr9:97094540-97094819	K562	blood:	n/a	n/a
42	CEBPB	chr9:97094449-97094728	K562	blood:	n/a	chr9:97094667-97094680
43	ELF1	chr9:97094555-97094812	K562	blood:	n/a	n/a
44	POLR2A	chr9:97094470-97095454	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
NUTM2F	TF binding region
ENSG00000232063	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10993177	0.80[EUR][1000 genomes]
rs10993182	0.80[EUR][1000 genomes]
rs10993186	0.83[EUR][1000 genomes]
rs10993188	0.83[EUR][1000 genomes]
rs11525963	0.80[EUR][1000 genomes]
rs12238822	0.83[AMR][1000 genomes]
rs2104642	0.80[EUR][1000 genomes]
rs60981486	0.91[AMR][1000 genomes];0.84[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	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv968733	chr9:97077924-97099816	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56062008	HIATL1	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97093200-97100800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:97094400-97095200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:97094400-97095200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:97094400-97095200	Active TSS	Adipose Nuclei	Adipose
5	chr9:97094400-97096000	Active TSS	K562	blood
6	chr9:97094600-97095000	Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr9:97094600-97095000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:97094600-97095200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:97094600-97095200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:97094600-97095200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:97094600-97095200	Active TSS	Right Atrium	heart
12	chr9:97094600-97095200	Active TSS	Monocytes-CD14+_RO01746	blood

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