Variant report

Variant	rs6943218
Chromosome Location	chr7:40580924-40580925
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10226881	0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228522	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239229	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240076	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241399	1.00[ASW][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs10260770	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262003	0.87[AFR][1000 genomes]
rs10264524	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277710	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282307	0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1034804	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11486857	0.89[ASW][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171725	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171735	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171746	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171748	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs17171754	0.89[ASW][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes]
rs2214846	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28479858	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28565517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28644197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4492257	0.89[ASW][hapmap];0.95[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs57955744	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60699942	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6960628	0.83[YRI][hapmap]
rs6975971	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310219	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782395	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782411	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7801001	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9886164	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	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
7	nsv966714	chr7:40576878-40581679	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40567600-40584600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:40568000-40581200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:40576800-40583800	Weak transcription	Aorta	Aorta
4	chr7:40578200-40586400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:40580000-40582000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:40580800-40581800	Enhancers	Osteobl	bone
7	chr7:40580800-40582000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:40580800-40582000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:40580800-40582000	Weak transcription	Ovary	ovary
10	chr7:40580800-40582800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:40580800-40587000	Enhancers	NHDF-Ad	bronchial

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