Variant report

Variant	rs6948028
Chromosome Location	chr7:78369819-78369820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10226116	1.00[EUR][1000 genomes]
rs10229518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10244492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10267590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12534800	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs13437895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16886268	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6980086	1.00[EUR][1000 genomes]
rs73135549	0.89[AFR][1000 genomes]
rs7796399	1.00[EUR][1000 genomes]
rs7797738	1.00[EUR][1000 genomes]
rs7803524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7807216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9656182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78361600-78372000	Weak transcription	Aorta	Aorta
2	chr7:78362800-78372200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:78363600-78380400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:78364200-78372000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:78366200-78372000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:78368000-78375600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:78368200-78372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:78368600-78374400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:78368800-78372200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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