Variant report

Variant	rs1415343
Chromosome Location	chr1:197238736-197238737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197169956..197172532-chr1:197238208..197240623,3	K562	blood:

Variant related genes	Relation type
ENSG00000134376	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10494752	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10801597	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801598	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801600	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10801601	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10801602	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10922181	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10922190	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10922197	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10922198	0.89[JPT][hapmap];0.92[MEX][hapmap]
rs12022402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12026252	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12045335	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12402465	1.00[MKK][hapmap]
rs1337005	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs1337006	1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1337007	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1337170	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1415210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1577802	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2884645	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4915393	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4915453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7418217	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7530522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7547972	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7548481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7553508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1415343	CFHR5	cis	parietal	SCAN
rs1415343	RGS18	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197236800-197239400	Active TSS	Brain Anterior Caudate	brain
2	chr1:197237000-197238800	Active TSS	Brain Hippocampus Middle	brain
3	chr1:197237000-197238800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:197237000-197239200	Active TSS	Brain Germinal Matrix	brain
5	chr1:197237000-197239400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:197237000-197240000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:197237000-197240000	Active TSS	Brain Angular Gyrus	brain
8	chr1:197237000-197240200	Active TSS	Fetal Brain Female	brain
9	chr1:197237200-197239000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:197237200-197239200	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr1:197237600-197243800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:197238400-197239400	Weak transcription	Fetal Heart	heart
13	chr1:197238600-197239200	Weak transcription	Brain Substantia Nigra	brain
14	chr1:197238600-197242800	Weak transcription	Brain Cingulate Gyrus	brain

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