Variant report

Variant	rs3729852
Chromosome Location	chr8:11614313-11614314
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	RCOR1	chr8:11613706-11614570	K562	blood:	n/a	n/a
2	ZMIZ1	chr8:11614236-11614578	K562	blood:	n/a	n/a
3	TEAD4	chr8:11614084-11614475	K562	blood:	n/a	n/a
4	BHLHE40	chr8:11614179-11614527	K562	blood:	n/a	chr8:11614317-11614333
5	EP300	chr8:11614147-11614487	K562	blood:	n/a	n/a
6	GATA2	chr8:11614059-11614484	K562	blood:	n/a	chr8:11614303-11614312 chr8:11614303-11614313 chr8:11614305-11614312 chr8:11614305-11614315
7	HMGN3	chr8:11614282-11614826	K562	blood:	n/a	chr8:11614304-11614311
8	CEBPD	chr8:11614117-11614586	K562	blood:	n/a	n/a
9	MYC	chr8:11613614-11614550	K562	blood:	n/a	n/a
10	GATA1	chr8:11613661-11615315	K562	blood:	n/a	chr8:11614303-11614312 chr8:11613903-11613913 chr8:11614303-11614313 chr8:11614305-11614312 chr8:11614305-11614315
11	GATA2	chr8:11614154-11614512	SH-SY5Y	brain:	n/a	chr8:11614303-11614312 chr8:11614303-11614313 chr8:11614305-11614312 chr8:11614305-11614315
12	CUX1	chr8:11614080-11614491	K562	blood:	n/a	n/a
13	MAX	chr8:11614134-11614439	K562	blood:	n/a	n/a
14	CCNT2	chr8:11614195-11614775	K562	blood:	n/a	n/a
15	MYC	chr8:11614092-11614444	K562	blood:	n/a	n/a
16	TEAD4	chr8:11614083-11614621	K562	blood:	n/a	n/a
17	E2F6	chr8:11614194-11614353	K562	blood:	n/a	n/a
18	MYC	chr8:11614010-11614516	K562	blood:	n/a	n/a
19	RCOR1	chr8:11614201-11614656	K562	blood:	n/a	n/a
20	POLR2A	chr8:11614157-11614454	K562	blood:	n/a	n/a
21	GATA3	chr8:11614187-11614431	SH-SY5Y	brain:	n/a	chr8:11614303-11614312 chr8:11614303-11614313 chr8:11614305-11614312 chr8:11614305-11614315
22	GATA2	chr8:11614207-11614495	K562	blood:	n/a	chr8:11614303-11614312 chr8:11614303-11614313 chr8:11614305-11614312 chr8:11614305-11614315
23	MAX	chr8:11614185-11614415	K562	blood:	n/a	n/a
24	POLR2A	chr8:11614246-11614439	K562	blood:	n/a	n/a
25	GATA1	chr8:11613850-11614749	PBDE	blood:	n/a	chr8:11614303-11614312 chr8:11613903-11613913 chr8:11614303-11614313 chr8:11614305-11614312 chr8:11614305-11614315
26	JUND	chr8:11614201-11614568	K562	blood:	n/a	n/a
27	MAX	chr8:11614123-11614602	K562	blood:	n/a	n/a
28	TBL1XR1	chr8:11614176-11614456	K562	blood:	n/a	n/a
29	CHD2	chr8:11613984-11614394	K562	blood:	n/a	n/a
30	UBTF	chr8:11614052-11614621	K562	blood:	n/a	n/a
31	MAFK	chr8:11614281-11614480	K562	blood:	n/a	chr8:11614418-11614438 chr8:11614420-11614436 chr8:11614421-11614435
32	UBTF	chr8:11614237-11614624	K562	blood:	n/a	n/a
33	MAZ	chr8:11613894-11614586	K562	blood:	n/a	n/a
34	TAL1	chr8:11614136-11614553	K562	blood:	n/a	n/a

Variant related genes	Relation type
C8orf49	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11250164	0.94[ASN][1000 genomes]
rs11784693	0.94[ASN][1000 genomes]
rs11785481	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13250578	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs810738	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv890359	chr8:11599570-11617240	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11604400-11614400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11604800-11616800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:11606000-11616200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:11606200-11617400	Strong transcription	HepG2	liver
5	chr8:11607000-11622800	Weak transcription	Stomach Mucosa	stomach
6	chr8:11608800-11619400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr8:11609200-11618600	Strong transcription	Ovary	ovary
8	chr8:11610200-11618400	Strong transcription	Liver	Liver
9	chr8:11610600-11621200	Strong transcription	Fetal Intestine Small	intestine
10	chr8:11610800-11615400	Enhancers	Fetal Heart	heart
11	chr8:11611000-11614400	Strong transcription	Gastric	stomach
12	chr8:11611200-11617000	Strong transcription	Placenta	Placenta
13	chr8:11611400-11618000	Strong transcription	Pancreas	Pancrea
14	chr8:11611600-11614400	Weak transcription	Right Atrium	heart
15	chr8:11612600-11614800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:11612800-11615200	Enhancers	K562	blood
17	chr8:11613000-11614400	Weak transcription	Fetal Intestine Large	intestine
18	chr8:11613200-11614400	Weak transcription	Right Ventricle	heart
19	chr8:11614200-11615800	Genic enhancers	Left Ventricle	heart

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