Variant report

Variant	rs213527
Chromosome Location	chr7:26908972-26908973
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	SP1	chr7:26908375-26909029	HCT-116	colon:	n/a	n/a
2	FOS	chr7:26908200-26909096	MCF10A-Er-Src	breast:	n/a	chr7:26908619-26908626 chr7:26908458-26908472 chr7:26908618-26908626 chr7:26908614-26908625 chr7:26908618-26908627
3	STAT3	chr7:26908706-26908995	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr7:26908254-26908988	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr7:26908438-26909117	Hela-S3	cervix:	n/a	chr7:26908619-26908626 chr7:26908458-26908472 chr7:26908618-26908626 chr7:26908614-26908625 chr7:26908618-26908627
6	FOSL1	chr7:26908383-26909058	HCT-116	colon:	n/a	chr7:26908619-26908626 chr7:26908458-26908472 chr7:26908618-26908626 chr7:26908614-26908625 chr7:26908618-26908627
7	RCOR1	chr7:26908543-26909146	Hela-S3	cervix:	n/a	n/a
8	GTF2F1	chr7:26908521-26908986	Hela-S3	cervix:	n/a	n/a
9	FOS	chr7:26908208-26909095	MCF10A-Er-Src	breast:	n/a	chr7:26908619-26908626 chr7:26908458-26908472 chr7:26908618-26908626 chr7:26908614-26908625 chr7:26908618-26908627
10	FOS	chr7:26908480-26909112	MCF10A-Er-Src	breast:	n/a	chr7:26908619-26908626 chr7:26908618-26908626 chr7:26908614-26908625 chr7:26908618-26908627
11	JUND	chr7:26908406-26909084	HCT-116	colon:	n/a	chr7:26908619-26908626 chr7:26908458-26908472 chr7:26908618-26908626 chr7:26908614-26908625 chr7:26908618-26908627
12	RFX5	chr7:26908382-26909057	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:26908877-26909026	Hela-S3	cervix:	n/a	n/a
14	MYC	chr7:26908488-26909083	MCF10A-Er-Src	breast:	n/a	chr7:26908634-26908644 chr7:26908617-26908626 chr7:26908618-26908627
15	CEBPB	chr7:26908280-26909348	Hela-S3	cervix:	n/a	chr7:26909194-26909205
16	FOS	chr7:26908473-26909102	MCF10A-Er-Src	breast:	n/a	chr7:26908619-26908626 chr7:26908618-26908626 chr7:26908614-26908625 chr7:26908618-26908627
17	RPC155	chr7:26908779-26909476	Hela-S3	cervix:	n/a	n/a
18	EP300	chr7:26908487-26909156	Hela-S3	cervix:	n/a	chr7:26908618-26908627 chr7:26908617-26908626
19	MAFK	chr7:26908544-26908986	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26902484..26906060-chr7:26906980..26911277,7	MCF-7	breast:
2	chr7:26904576..26906244-chr7:26908580..26910175,2	K562	blood:
3	chr7:26903581..26905887-chr7:26906835..26909614,2	MCF-7	breast:
4	chr7:26904255..26906076-chr7:26908675..26911036,2	K562	blood:

Variant related genes	Relation type
SKAP2	TF binding region
ENSG00000005020	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11764558	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs11770043	0.84[LWK][hapmap];0.88[YRI][hapmap]
rs12700755	0.88[YRI][hapmap]
rs12700759	0.88[YRI][hapmap]
rs12700762	0.89[JPT][hapmap]
rs212846	0.84[YRI][hapmap]
rs212851	0.86[ASW][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap]
rs2282906	0.88[YRI][hapmap]
rs2299101	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs2769364	0.81[CEU][hapmap]
rs2769365	0.82[CEU][hapmap]
rs3801806	0.87[TSI][hapmap]
rs3801839	0.92[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs3801872	0.86[ASW][hapmap]
rs4722628	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs484426	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs496173	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs498561	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5012512	0.88[YRI][hapmap]
rs601106	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs607099	0.87[TSI][hapmap]
rs643036	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6461961	0.84[YRI][hapmap]
rs6461964	0.87[YRI][hapmap]
rs6461971	0.88[YRI][hapmap]
rs648297	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs687603	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7795313	0.82[TSI][hapmap]
rs7802771	0.81[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs213527	SKAP2	cis	Whole Blood	GTEx
rs213527	C7orf31	cis	parietal	SCAN
rs213527	HOXA2	cis	Whole Blood	GTEx
rs213527	HOTAIRM1	cis	Whole Blood	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26908000-26909400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:26908000-26909400	Enhancers	HMEC	breast
3	chr7:26908000-26909400	Enhancers	NHEK	skin
4	chr7:26908200-26909200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:26908200-26909200	Enhancers	HSMM	muscle
6	chr7:26908400-26909000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:26908400-26909000	Enhancers	A549	lung
8	chr7:26908800-26909200	Flanking Active TSS	Hela-S3	cervix
9	chr7:26908800-26909400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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