Variant report

Variant	rs9693033
Chromosome Location	chr8:19121924-19121925
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	FOXA1	chr8:19121797-19122363	HepG2	liver:	n/a	n/a
2	CEBPD	chr8:19121919-19122293	HepG2	liver:	n/a	n/a
3	RXRA	chr8:19121922-19122334	HepG2	liver:	n/a	n/a
4	YY1	chr8:19121905-19122305	HepG2	liver:	n/a	chr8:19122158-19122166
5	HNF4G	chr8:19121843-19122354	HepG2	liver:	n/a	chr8:19122044-19122059
6	SP1	chr8:19121855-19122336	HepG2	liver:	n/a	n/a
7	REST	chr8:19121921-19122279	HepG2	liver:	n/a	chr8:19122112-19122130
8	HNF4A	chr8:19121880-19122285	HepG2	liver:	n/a	n/a
9	HNF4G	chr8:19121870-19122297	HepG2	liver:	n/a	chr8:19122044-19122059
10	MYBL2	chr8:19121840-19122381	HepG2	liver:	n/a	n/a
11	EP300	chr8:19121852-19122349	HepG2	liver:	n/a	n/a
12	HNF4A	chr8:19121875-19122341	HepG2	liver:	n/a	n/a
13	FOXA1	chr8:19121813-19122368	HepG2	liver:	n/a	n/a
14	FOXA2	chr8:19121869-19122234	HepG2	liver:	n/a	n/a
15	NFIC	chr8:19121875-19122345	HepG2	liver:	n/a	n/a
16	HDAC2	chr8:19121921-19122324	HepG2	liver:	n/a	n/a
17	MYBL2	chr8:19121836-19122393	HepG2	liver:	n/a	n/a
18	EP300	chr8:19121835-19122304	HepG2	liver:	n/a	n/a
19	FOXA1	chr8:19121877-19122288	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000253557	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10086781	0.80[ASN][1000 genomes]
rs12155890	0.80[EUR][1000 genomes]
rs17128056	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2410608	0.82[EUR][1000 genomes]
rs4922008	0.82[EUR][1000 genomes]
rs55844729	0.84[ASN][1000 genomes]
rs56096124	0.83[ASN][1000 genomes]
rs62493805	0.87[ASN][1000 genomes]
rs62493808	0.84[ASN][1000 genomes]
rs62493809	0.84[ASN][1000 genomes]
rs62493810	0.84[ASN][1000 genomes]
rs62493811	0.83[ASN][1000 genomes]
rs62493829	0.82[EUR][1000 genomes]
rs6986433	0.81[ASN][1000 genomes]
rs7010888	0.90[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs73210465	0.84[ASN][1000 genomes]
rs73210467	0.82[ASN][1000 genomes]
rs73210468	0.80[ASN][1000 genomes]
rs9644622	0.86[ASN][1000 genomes]
rs9644623	0.86[ASN][1000 genomes]
rs9644624	0.91[ASN][1000 genomes]
rs9644625	0.84[ASN][1000 genomes]
rs9644626	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv917232	chr8:18585309-19208665	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
13	nsv890615	chr8:18989735-19181921	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv890616	chr8:18989735-19197809	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv1033297	chr8:19108472-19150023	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1034119	chr8:19115084-19164833	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv465599	chr8:19115136-19159082	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv610747	chr8:19115136-19159082	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv465600	chr8:19116030-19156100	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv610748	chr8:19116030-19156100	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv610749	chr8:19116030-19160915	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9693033	TSPYL6	trans	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19119000-19122000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:19119600-19123800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:19119600-19124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:19120400-19124600	Weak transcription	Osteobl	bone
5	chr8:19120400-19124800	Weak transcription	A549	lung
6	chr8:19120600-19124600	Weak transcription	NH-A	brain
7	chr8:19121000-19123000	Enhancers	Fetal Heart	heart
8	chr8:19121000-19123600	Enhancers	HepG2	liver
9	chr8:19121200-19122200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:19121200-19123800	Enhancers	Ovary	ovary
11	chr8:19121400-19123600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:19121600-19124000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:19121600-19129400	Weak transcription	Spleen	Spleen
14	chr8:19121800-19122000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:19121800-19122200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:19121800-19123000	Enhancers	Stomach Mucosa	stomach

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