Variant report

Variant	rs10243055
Chromosome Location	chr7:102933104-102933105
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	E2F4	chr7:102933101-102933121	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102931989..102933552-chr7:102937407..102939428,2	MCF-7	breast:
2	chr7:102931004..102933961-chr7:102984506..102986894,2	K562	blood:

Variant related genes	Relation type
PMPCB	TF binding region
ENSG00000105821	Chromatin interaction
ENSG00000105819	Chromatin interaction
ENSG00000161057	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10046531	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234196	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241815	1.00[AMR][1000 genomes]
rs10245037	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10246237	1.00[AMR][1000 genomes]
rs10247278	0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10252006	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10255884	1.00[AMR][1000 genomes]
rs10258184	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259126	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10271644	1.00[AMR][1000 genomes]
rs10273102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279918	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10441305	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2079253	0.90[AFR][1000 genomes]
rs28399298	1.00[AMR][1000 genomes]
rs28452903	1.00[AMR][1000 genomes]
rs28482805	1.00[AMR][1000 genomes]
rs28602812	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs28605237	1.00[AMR][1000 genomes]
rs4480048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4612274	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56703102	1.00[AMR][1000 genomes]
rs58192762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6944594	1.00[AMR][1000 genomes]
rs7794374	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][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	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
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102931800-102937400	Weak transcription	Fetal Brain Male	brain
2	chr7:102932000-102933600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:102932200-102933200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:102932200-102933600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:102932800-102937400	Weak transcription	Rectal Smooth Muscle	rectum

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