Variant report

Variant	rs7802215
Chromosome Location	chr7:78072970-78072971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2110868	1.00[CEU][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4727702	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7787781	0.84[MEX][hapmap]
rs7803973	0.99[EUR][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	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7802215	GTF2IRD1	cis	cerebellum	SCAN
rs7802215	CCL26	cis	cerebellum	SCAN
rs7802215	RPL13AP17	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78067000-78079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:78071000-78073600	Enhancers	Brain Anterior Caudate	brain
3	chr7:78071400-78073000	Enhancers	Brain Substantia Nigra	brain
4	chr7:78071400-78073600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr7:78071600-78073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:78072200-78073200	Enhancers	Fetal Heart	heart
7	chr7:78072400-78073200	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:78072800-78077400	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:78072800-78079600	Weak transcription	Brain Angular Gyrus	brain
10	chr7:78072800-78079800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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