Variant report

Variant	rs6975971
Chromosome Location	chr7:40559012-40559013
allele	C/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:30)

rs_ID	r²[population]
rs10226881	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228522	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239229	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240076	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241399	0.85[AFR][1000 genomes]
rs10260770	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262003	0.86[AFR][1000 genomes]
rs10264524	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282307	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1034804	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11486857	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171725	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171746	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171748	0.86[AFR][1000 genomes]
rs17171754	0.81[AFR][1000 genomes]
rs2214846	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28479858	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28565517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28644197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4492257	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57955744	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60699942	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6943218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310219	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782395	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782411	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7801001	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9886164	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	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
8	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40552600-40560800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:40553000-40564400	Weak transcription	Aorta	Aorta
3	chr7:40557600-40568200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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