Variant report

Variant	rs10249126
Chromosome Location	chr7:40538810-40538811
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10248808	1.00[ASN][1000 genomes]
rs10269234	0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs10275306	0.89[EUR][1000 genomes]
rs10278801	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs10281324	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534250	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs12534251	0.93[EUR][1000 genomes]
rs1304795	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs16880235	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs17171713	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs17171715	1.00[ASN][1000 genomes]
rs17171716	0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs17433681	0.86[CEU][hapmap]
rs17433827	0.86[CEU][hapmap]
rs17434037	0.86[CEU][hapmap]
rs2024014	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs2024015	1.00[ASN][1000 genomes]
rs2158761	0.92[EUR][1000 genomes]
rs2329776	0.92[EUR][1000 genomes]
rs6462982	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6462983	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462984	0.94[EUR][1000 genomes]
rs67377442	0.94[EUR][1000 genomes]
rs6947887	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs6948150	0.86[CEU][hapmap]
rs6957636	0.93[CEU][hapmap]
rs6958651	0.93[EUR][1000 genomes]
rs6965918	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs73324068	1.00[ASN][1000 genomes]
rs73324073	1.00[ASN][1000 genomes]
rs73688099	1.00[ASN][1000 genomes]
rs73689803	1.00[ASN][1000 genomes]
rs73689804	1.00[ASN][1000 genomes]
rs73689806	1.00[ASN][1000 genomes]
rs7784279	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs7789681	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs7793175	0.94[EUR][1000 genomes]
rs9655411	0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs9690969	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984367	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830969	chr7:40422576-40582389	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1017615	chr7:40445480-40570791	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1029342	chr7:40489083-40542933	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv538822	chr7:40508179-40546833	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40534000-40539000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:40534000-40539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:40534000-40539000	Weak transcription	Osteobl	bone
4	chr7:40534000-40558600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:40534200-40539000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:40535600-40542000	Weak transcription	Liver	Liver
7	chr7:40538600-40540200	Enhancers	NHDF-Ad	bronchial
8	chr7:40538600-40540800	Enhancers	Dnd41	blood
9	chr7:40538800-40540000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:40538800-40540200	Enhancers	HSMM	muscle
11	chr7:40538800-40545600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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