Variant report

Variant	rs10735995
Chromosome Location	chr12:41800893-41800894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1026463	1.00[JPT][hapmap]
rs10506191	0.96[CEU][hapmap]
rs10506192	0.96[CEU][hapmap]
rs10735993	0.87[EUR][1000 genomes]
rs10735994	0.89[EUR][1000 genomes]
rs10785235	0.96[CEU][hapmap]
rs10785258	0.96[CEU][hapmap]
rs10785261	0.96[CEU][hapmap]
rs10785263	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap]
rs10785264	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs10880054	0.96[CEU][hapmap]
rs10880063	0.96[CEU][hapmap]
rs10880067	0.96[CEU][hapmap]
rs10880071	0.96[CEU][hapmap]
rs11180836	0.96[CEU][hapmap]
rs11180851	0.92[CEU][hapmap]
rs11180863	0.96[CEU][hapmap]
rs11180864	0.96[CEU][hapmap]
rs11180878	0.96[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11610969	0.84[ASN][1000 genomes]
rs11611727	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11614231	0.96[CEU][hapmap]
rs11835941	0.96[CEU][hapmap]
rs12369680	0.96[CEU][hapmap]
rs12370984	0.81[ASN][1000 genomes]
rs12812128	0.84[ASN][1000 genomes]
rs12817575	0.96[CEU][hapmap]
rs1350432	0.84[ASN][1000 genomes]
rs1405549	0.96[CEU][hapmap]
rs1458176	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];0.81[ASN][1000 genomes]
rs1527090	0.96[CEU][hapmap]
rs1534280	0.96[CEU][hapmap]
rs1598893	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17577127	0.84[ASN][1000 genomes]
rs1902907	1.00[CEU][hapmap]
rs1902911	0.96[CEU][hapmap]
rs2199030	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.83[ASN][1000 genomes]
rs2897268	0.96[CEU][hapmap]
rs34892771	0.83[ASN][1000 genomes]
rs6582332	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[CHD][hapmap];0.89[MEX][hapmap]
rs6582334	0.96[CEU][hapmap]
rs7133365	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs7954106	0.96[CEU][hapmap]
rs7956320	0.96[CEU][hapmap]
rs7956499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7957823	0.96[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7960955	0.96[CEU][hapmap]
rs7963312	0.96[CEU][hapmap]
rs930905	0.96[CEU][hapmap]
rs961337	0.96[CEU][hapmap]
rs981013	1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv899036	chr12:41777144-41807859	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv899037	chr12:41777144-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1044910	chr12:41778831-41813198	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv2761735	chr12:41780758-41811938	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv2757501	chr12:41780758-41816002	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv2759896	chr12:41780758-41816002	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv2755020	chr12:41780758-41820936	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv899038	chr12:41784137-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv818915	chr12:41784997-41811063	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
12	nsv899039	chr12:41784997-41813207	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv1050627	chr12:41789891-41809009	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10735995	PDZRN4	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41800600-41801200	Enhancers	Brain Substantia Nigra	brain
2	chr12:41800600-41801600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:41800600-41801800	Enhancers	Fetal Brain Female	brain
4	chr12:41800600-41802200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:41800800-41801000	Enhancers	Brain Cingulate Gyrus	brain
6	chr12:41800800-41801000	Enhancers	Brain Hippocampus Middle	brain
7	chr12:41800800-41801000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr12:41800800-41801000	Flanking Active TSS	Fetal Brain Male	brain
9	chr12:41800800-41801200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:41800800-41801200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:41800800-41801200	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr12:41800800-41801200	Enhancers	Brain Germinal Matrix	brain
13	chr12:41800800-41801400	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr12:41800800-41801600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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