Variant report

Variant	rs4719138
Chromosome Location	chr7:70996097-70996098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13238757	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34860529	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35601662	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4128374	0.88[CHD][hapmap]
rs4272248	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6460662	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6460666	0.86[CHD][hapmap]
rs6460669	0.88[CHD][hapmap]
rs6460672	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6947549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6969457	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6973852	0.88[CHD][hapmap]

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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1033783	chr7:70955277-71023877	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4719138	CLDN4	cis	cerebellum	SCAN
rs4719138	CLDN3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70973200-70998600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:70983000-71007800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:70986800-71006600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:70987400-70998400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:70988000-70999800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:70988000-71003400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:70988000-71023800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:70990800-70996600	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:70993800-70997800	Weak transcription	hESC Derived CD184+ Endoderm 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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