Variant report

Variant	rs1379775
Chromosome Location	chr12:41841572-41841573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1000147	0.80[JPT][hapmap]
rs10735994	0.84[ASN][1000 genomes]
rs10785254	0.83[JPT][hapmap]
rs10785264	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10785266	1.00[JPT][hapmap]
rs10880071	0.90[JPT][hapmap]
rs10880073	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880075	0.89[ASN][1000 genomes]
rs10880076	0.93[ASN][1000 genomes]
rs11180934	1.00[JPT][hapmap]
rs1155220	0.93[ASN][1000 genomes]
rs1160183	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1160184	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1160748	0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1160749	0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11614231	0.90[JPT][hapmap]
rs12314238	0.93[ASN][1000 genomes]
rs1350429	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1350430	0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1379758	0.82[ASN][1000 genomes]
rs1379759	0.82[ASN][1000 genomes]
rs1379760	0.82[ASN][1000 genomes]
rs1379761	0.82[ASN][1000 genomes]
rs1379763	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1379764	0.82[ASN][1000 genomes]
rs1379770	0.82[ASN][1000 genomes]
rs1379771	0.82[ASN][1000 genomes]
rs1379772	0.82[ASN][1000 genomes]
rs1379773	0.93[ASN][1000 genomes]
rs1379774	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1379776	0.93[ASN][1000 genomes]
rs1458159	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1458165	0.80[JPT][hapmap]
rs1458166	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1458167	0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1458168	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1471162	0.93[ASN][1000 genomes]
rs1471163	0.93[ASN][1000 genomes]
rs1551593	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1551595	0.93[ASN][1000 genomes]
rs1551596	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1598894	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1841025	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1870285	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1870286	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1902906	0.82[ASN][1000 genomes]
rs2125286	0.82[ASN][1000 genomes]
rs2125287	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2204591	0.80[JPT][hapmap]
rs2250009	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2250908	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2251259	0.92[ASN][1000 genomes]
rs2251349	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2251672	0.89[ASN][1000 genomes]
rs2251683	0.93[ASN][1000 genomes]
rs2251684	0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2255035	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2255145	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2255152	0.82[ASN][1000 genomes]
rs2255404	0.82[ASN][1000 genomes]
rs2405919	1.00[JPT][hapmap]
rs2405921	0.82[ASN][1000 genomes]
rs2446143	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2446144	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2468314	1.00[JPT][hapmap]
rs2468317	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2608689	0.82[ASN][1000 genomes]
rs2608690	0.82[ASN][1000 genomes]
rs2608692	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2608696	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2608697	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2608701	0.93[ASN][1000 genomes]
rs2608703	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2608704	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2608705	0.81[ASN][1000 genomes]
rs2608706	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2608707	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2608708	1.00[JPT][hapmap]
rs2608710	0.93[ASN][1000 genomes]
rs2608715	1.00[JPT][hapmap]
rs2608718	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2730802	0.82[ASN][1000 genomes]
rs2730804	0.89[ASN][1000 genomes]
rs2730805	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2730807	1.00[JPT][hapmap]
rs2730809	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2730810	0.92[ASN][1000 genomes]
rs2730811	0.93[ASN][1000 genomes]
rs2730817	0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2730818	0.91[ASN][1000 genomes]
rs2730819	0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2730820	0.93[ASN][1000 genomes]
rs2730821	0.93[ASN][1000 genomes]
rs2730822	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2730824	0.82[ASN][1000 genomes]
rs2730828	0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2730829	0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2733274	0.84[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2733275	1.00[JPT][hapmap]
rs2733278	1.00[JPT][hapmap]
rs2733282	0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2733291	0.93[ASN][1000 genomes]
rs2733293	0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2733297	0.93[ASN][1000 genomes]
rs2733298	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2733299	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2957590	0.93[ASN][1000 genomes]
rs35766123	0.93[ASN][1000 genomes]
rs4584644	0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4768353	0.93[ASN][1000 genomes]
rs7133365	0.88[ASN][1000 genomes]
rs7298808	0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7977318	1.00[JPT][hapmap]
rs897973	0.84[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs971998	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs981012	0.93[ASN][1000 genomes]
rs989904	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs996356	0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1379775	PDZRN4	cis	parietal	SCAN
rs1379775	ABCD2	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41838000-41852400	Weak transcription	Fetal Brain Male	brain
3	chr12:41838200-41852400	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41838400-41851600	Weak transcription	Brain Germinal Matrix	brain

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