Variant report

Variant	rs7806531
Chromosome Location	chr7:71023877-71023878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10224027	0.89[ASN][1000 genomes]
rs10235508	0.89[ASN][1000 genomes]
rs10237318	0.83[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs10239083	0.80[ASN][1000 genomes]
rs10242031	0.89[ASN][1000 genomes]
rs10244344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10270843	0.83[CHB][hapmap]
rs10447533	0.83[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs10950264	0.80[ASN][1000 genomes]
rs10950265	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs11763708	0.87[ASN][1000 genomes]
rs11766113	0.80[ASN][1000 genomes]
rs11767799	0.80[ASN][1000 genomes]
rs11769266	0.87[ASN][1000 genomes]
rs11773571	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28658503	0.84[ASN][1000 genomes]
rs28709000	0.89[ASN][1000 genomes]
rs4557585	0.87[ASN][1000 genomes]
rs4717604	1.00[JPT][hapmap]
rs4719140	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs4719141	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs4719142	0.85[ASN][1000 genomes]
rs4719149	0.80[ASN][1000 genomes]
rs4719152	0.81[ASW][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap]
rs55780804	0.84[ASN][1000 genomes]
rs56230426	0.97[ASN][1000 genomes]
rs56268443	0.97[ASN][1000 genomes]
rs58587487	0.87[ASN][1000 genomes]
rs59543111	0.88[ASN][1000 genomes]
rs60560541	1.00[ASN][1000 genomes]
rs62459927	0.84[ASN][1000 genomes]
rs62459931	0.87[ASN][1000 genomes]
rs62459956	0.90[ASN][1000 genomes]
rs6460664	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs6460670	0.89[ASN][1000 genomes]
rs6460671	0.83[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs6460673	0.83[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs6460674	0.88[ASN][1000 genomes]
rs6960915	0.89[ASN][1000 genomes]
rs6973274	0.89[ASN][1000 genomes]
rs6977973	0.83[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs7777634	0.85[ASN][1000 genomes]
rs7779947	0.89[ASN][1000 genomes]
rs7786397	0.88[ASN][1000 genomes]
rs7788004	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7788057	0.80[ASN][1000 genomes]
rs7799605	0.83[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs7803346	0.89[ASN][1000 genomes]
rs7805159	0.83[ASN][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	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
4	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7806531	CLDN3	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71016600-71024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:71017400-71024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:71019800-71024200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:71020800-71024000	Weak transcription	Fetal Brain Male	brain
5	chr7:71023000-71024800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:71023000-71025600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:71023200-71024400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:71023200-71024600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:71023200-71024600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:71023200-71024800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:71023400-71024400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr7:71023400-71024600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:71023400-71024800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:71023400-71024800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:71023400-71024800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:71023400-71025400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:71023400-71025600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:71023600-71024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:71023600-71024800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:71023800-71024400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:71023800-71024800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:71023800-71024800	Enhancers	H9 Cell Line	embryonic stem cell

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