Variant report

Variant	rs7002414
Chromosome Location	chr8:62657690-62657691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10112867	0.86[CEU][hapmap];0.88[GIH][hapmap];0.88[EUR][1000 genomes]
rs13264781	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13266879	0.88[GIH][hapmap];0.91[MEX][hapmap];0.88[EUR][1000 genomes]
rs28449872	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4322003	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4628254	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs59681890	0.86[AMR][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7002414	CHD7	cis	cerebellum	SCAN
rs7002414	KRT23	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62654200-62657800	Weak transcription	A549	lung
2	chr8:62654800-62660600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:62657400-62658000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:62657400-62658000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:62657400-62658600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:62657400-62658600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:62657400-62658600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:62657400-62658800	Enhancers	NHDF-Ad	bronchial
9	chr8:62657400-62658800	Enhancers	Osteobl	bone
10	chr8:62657600-62658000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:62657600-62658200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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