Variant report

Variant	rs9792291
Chromosome Location	chr8:38970749-38970750
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	FOXM1	chr8:38970326-38971052	GM12878	blood:	n/a	n/a
2	RAD21	chr8:38970679-38970878	Hela-S3	cervix:	n/a	n/a
3	FOSL1	chr8:38970429-38970963	HCT-116	colon:	n/a	n/a
4	EP300	chr8:38970418-38970984	GM12878	blood:	n/a	n/a
5	FOS	chr8:38970538-38970942	MCF10A-Er-Src	breast:	n/a	chr8:38970704-38970715
6	PBX3	chr8:38970431-38971090	SK-N-SH	brain:	n/a	n/a
7	JUND	chr8:38970570-38970874	K562	blood:	n/a	n/a
8	STAT3	chr8:38970731-38970917	MCF10A-Er-Src	breast:	n/a	n/a
9	CUX1	chr8:38970424-38970820	GM12878	blood:	n/a	n/a
10	MTA3	chr8:38970288-38971082	GM12878	blood:	n/a	n/a
11	MEF2A	chr8:38970441-38970966	GM12878	blood:	n/a	n/a
12	CHD2	chr8:38970609-38970944	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:38970496-38970976	SK-N-SH	brain:	n/a	n/a
14	E2F4	chr8:38970608-38970898	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT1	chr8:38970628-38970851	GM12878	blood:	n/a	n/a
16	POU2F2	chr8:38970357-38970964	GM12878	blood:	n/a	n/a
17	FOS	chr8:38970531-38971009	MCF10A-Er-Src	breast:	n/a	chr8:38970704-38970715
18	GATA3	chr8:38970427-38971079	SK-N-SH	brain:	n/a	n/a
19	MYC	chr8:38970607-38970796	MCF10A-Er-Src	breast:	n/a	n/a
20	TAF1	chr8:38970335-38970883	PFSK-1	brain:	n/a	n/a
21	RUNX3	chr8:38970405-38971015	GM12878	blood:	n/a	n/a
22	EP300	chr8:38970496-38970860	SK-N-SH_RA	brain:	n/a	n/a
23	POLR2A	chr8:38970211-38971033	U87	brain:	n/a	n/a
24	TBL1XR1	chr8:38970507-38970871	GM12878	blood:	n/a	n/a
25	BCLAF1	chr8:38970435-38970965	GM12878	blood:	n/a	n/a
26	SPI1	chr8:38970332-38970961	GM12891	blood:	n/a	n/a
27	EP300	chr8:38970470-38970904	GM12878	blood:	n/a	n/a
28	NFIC	chr8:38970324-38971022	GM12878	blood:	n/a	n/a
29	PML	chr8:38970337-38971042	GM12878	blood:	n/a	n/a
30	EBF1	chr8:38970559-38971075	GM12878	blood:	n/a	chr8:38970600-38970611
31	BATF	chr8:38970491-38971012	GM12878	blood:	n/a	chr8:38970702-38970713
32	FOS	chr8:38970462-38970996	HUVEC	blood vessel:	n/a	chr8:38970704-38970715
33	WRNIP1	chr8:38970493-38970893	GM12878	blood:	n/a	n/a
34	CEBPB	chr8:38970600-38970919	Hela-S3	cervix:	n/a	n/a
35	FOS	chr8:38970573-38970892	MCF10A-Er-Src	breast:	n/a	chr8:38970704-38970715
36	BATF	chr8:38970449-38971032	GM12878	blood:	n/a	chr8:38970702-38970713
37	RAD21	chr8:38970553-38970940	IMR90	lung:	n/a	n/a
38	RCOR1	chr8:38970703-38970903	Hela-S3	cervix:	n/a	n/a
39	EP300	chr8:38970420-38970874	GM12878	blood:	n/a	n/a
40	EBF1	chr8:38970496-38970960	GM12878	blood:	n/a	chr8:38970600-38970611
41	TBP	chr8:38970602-38970862	Hela-S3	cervix:	n/a	n/a
42	EBF1	chr8:38970412-38970995	GM12878	blood:	n/a	chr8:38970600-38970611
43	TCF3	chr8:38970506-38970937	GM12878	blood:	n/a	n/a
44	TCF12	chr8:38970354-38971110	SK-N-SH	brain:	n/a	n/a
45	FOS	chr8:38970556-38970939	MCF10A-Er-Src	breast:	n/a	chr8:38970704-38970715
46	SPI1	chr8:38970285-38971089	GM12878	blood:	n/a	n/a
47	BCL3	chr8:38970559-38970977	GM12878	blood:	n/a	n/a
48	GTF2F1	chr8:38970617-38970850	Hela-S3	cervix:	n/a	n/a
49	BCL3	chr8:38970477-38970899	GM12878	blood:	n/a	n/a
50	SMC3	chr8:38970639-38970834	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ADAM32	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10088237	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10101239	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10102672	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10103990	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778751	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11992635	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12548879	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13259005	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13275748	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13280710	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13282588	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2067726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34723835	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34810791	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35779397	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4236754	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4294154	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4324893	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4335097	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4412340	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4419781	0.82[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4527834	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733974	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733975	0.82[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733976	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733977	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4733978	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55713884	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56276963	0.87[AFR][1000 genomes]
rs62504765	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6474107	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6474112	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6982058	0.86[AFR][1000 genomes]
rs6994035	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71517748	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7818055	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9650316	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9792291	ADAM32	cis	parietal	SCAN
rs9792291	ANK1	cis	parietal	SCAN
rs9792291	ASH2L	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38969800-38971400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:38970000-38970800	Enhancers	GM12878-XiMat	blood
3	chr8:38970000-38971000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:38970000-38971000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:38970000-38971000	Enhancers	NHLF	lung
6	chr8:38970000-38971200	Enhancers	NH-A	brain
7	chr8:38970200-38970800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:38970200-38970800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:38970200-38970800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:38970200-38971000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:38970200-38971000	Enhancers	HUVEC	blood vessel
12	chr8:38970200-38971200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:38970200-38971200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:38970200-38971200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:38970200-38971200	Enhancers	NHEK	skin
16	chr8:38970200-38971200	Enhancers	Osteobl	bone
17	chr8:38970200-38971400	Enhancers	HMEC	breast
18	chr8:38970200-38971400	Enhancers	NHDF-Ad	bronchial
19	chr8:38970400-38970800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:38970400-38970800	Enhancers	K562	blood
21	chr8:38970400-38971000	Enhancers	HSMM	muscle
22	chr8:38970600-38970800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:38970600-38971000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links