Variant report

Variant	rs7777217
Chromosome Location	chr7:102625043-102625044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1061844	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12113318	1.00[CHB][hapmap];0.83[LWK][hapmap];0.86[MKK][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs12154379	1.00[ASN][1000 genomes]
rs17135913	0.84[CEU][hapmap]
rs17135916	0.84[CEU][hapmap]
rs2228687	0.84[CEU][hapmap]
rs2411061	0.83[CEU][hapmap];0.80[YRI][hapmap]
rs4061	1.00[CHB][hapmap]
rs55817310	1.00[ASN][1000 genomes]
rs56165482	1.00[ASN][1000 genomes]
rs61110292	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465886	0.82[CEU][hapmap]
rs6465887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465889	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs67993916	1.00[ASN][1000 genomes]
rs6958836	1.00[ASN][1000 genomes]
rs6964296	0.84[CEU][hapmap]
rs6965463	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968036	0.84[CEU][hapmap]
rs73410104	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410128	1.00[ASN][1000 genomes]
rs7799057	1.00[ASN][1000 genomes]
rs7806025	1.00[ASN][1000 genomes]
rs7806616	1.00[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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv5881	chr7:102610488-102655699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7777217	CUX1	cis	cerebellum	SCAN
rs7777217	MEPCE	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102613000-102625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:102613200-102631200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:102618400-102630000	Weak transcription	Right Atrium	heart
4	chr7:102619400-102625600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:102620200-102625600	Weak transcription	Aorta	Aorta
6	chr7:102623800-102636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:102624600-102625200	Weak transcription	NH-A	brain
8	chr7:102625000-102626800	Strong transcription	K562	blood

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