Variant report

Variant	rs285575
Chromosome Location	chr12:41921665-41921666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs1026462	0.81[CHB][hapmap]
rs1026464	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs10785265	0.81[CHB][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs10880075	0.82[EUR][1000 genomes]
rs10880076	0.83[EUR][1000 genomes]
rs10880094	0.82[CHB][hapmap]
rs11180934	0.84[CEU][hapmap]
rs11180990	0.82[CHB][hapmap]
rs11180999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181001	0.92[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1155220	0.82[EUR][1000 genomes]
rs1160183	0.81[EUR][1000 genomes]
rs1160184	0.82[EUR][1000 genomes]
rs1160748	0.81[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs1160749	0.82[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1350429	0.82[EUR][1000 genomes]
rs1350430	0.82[MEX][hapmap]
rs1379758	0.86[EUR][1000 genomes]
rs1379759	0.86[EUR][1000 genomes]
rs1379760	0.86[EUR][1000 genomes]
rs1379761	0.84[EUR][1000 genomes]
rs1379763	0.85[EUR][1000 genomes]
rs1379764	0.84[EUR][1000 genomes]
rs1379768	0.81[CHB][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs1379769	0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs1379770	0.84[EUR][1000 genomes]
rs1379771	0.85[EUR][1000 genomes]
rs1379772	0.85[EUR][1000 genomes]
rs1379773	0.83[EUR][1000 genomes]
rs1379774	0.86[EUR][1000 genomes]
rs1379776	0.82[EUR][1000 genomes]
rs1458156	0.88[CEU][hapmap];0.81[CHB][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1458157	0.88[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1458158	0.88[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1458159	0.84[EUR][1000 genomes]
rs1458160	0.88[EUR][1000 genomes]
rs1458165	0.81[MEX][hapmap]
rs1458166	0.84[EUR][1000 genomes]
rs1458167	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1458168	0.82[EUR][1000 genomes]
rs1471161	0.81[CHB][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1471162	0.82[EUR][1000 genomes]
rs1471163	0.82[EUR][1000 genomes]
rs1551593	0.83[EUR][1000 genomes]
rs1551595	0.82[EUR][1000 genomes]
rs1551596	0.82[EUR][1000 genomes]
rs1598894	0.82[EUR][1000 genomes]
rs1841025	0.82[EUR][1000 genomes]
rs1870285	0.85[EUR][1000 genomes]
rs1870286	0.82[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1902906	0.86[EUR][1000 genomes]
rs2034923	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2122793	0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap]
rs2125286	0.86[EUR][1000 genomes]
rs2125287	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2199028	0.89[EUR][1000 genomes]
rs2250003	0.86[EUR][1000 genomes]
rs2250009	0.82[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs2250908	0.82[EUR][1000 genomes]
rs2251259	0.82[EUR][1000 genomes]
rs2251349	0.82[EUR][1000 genomes]
rs2251672	0.80[EUR][1000 genomes]
rs2251683	0.82[EUR][1000 genomes]
rs2251684	0.81[EUR][1000 genomes]
rs2253528	0.88[EUR][1000 genomes]
rs2253633	0.86[EUR][1000 genomes]
rs2253634	0.88[EUR][1000 genomes]
rs2255035	0.85[EUR][1000 genomes]
rs2255145	0.85[EUR][1000 genomes]
rs2255152	0.84[EUR][1000 genomes]
rs2255404	0.86[EUR][1000 genomes]
rs2256412	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2264905	0.82[EUR][1000 genomes]
rs2405920	0.86[EUR][1000 genomes]
rs2405921	0.86[EUR][1000 genomes]
rs2446143	0.82[EUR][1000 genomes]
rs2446144	0.82[EUR][1000 genomes]
rs2468310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2468314	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs2468315	0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs2468316	0.86[EUR][1000 genomes]
rs2468317	0.86[EUR][1000 genomes]
rs2608689	0.86[EUR][1000 genomes]
rs2608690	0.86[EUR][1000 genomes]
rs2608691	0.85[EUR][1000 genomes]
rs2608692	0.82[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs2608696	0.85[EUR][1000 genomes]
rs2608697	0.85[EUR][1000 genomes]
rs2608701	0.82[EUR][1000 genomes]
rs2608702	0.84[EUR][1000 genomes]
rs2608704	0.85[EUR][1000 genomes]
rs2608705	0.85[EUR][1000 genomes]
rs2608706	0.85[EUR][1000 genomes]
rs2608707	0.82[EUR][1000 genomes]
rs2608708	0.84[EUR][1000 genomes]
rs2608710	0.82[EUR][1000 genomes]
rs2608711	0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs2608714	0.86[EUR][1000 genomes]
rs2608715	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs2608716	0.87[EUR][1000 genomes]
rs2608718	0.86[EUR][1000 genomes]
rs2710264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2710265	0.87[ASN][1000 genomes]
rs2730802	0.85[EUR][1000 genomes]
rs2730803	0.88[CEU][hapmap];0.81[CHB][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2730805	0.84[EUR][1000 genomes]
rs2730807	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs2730809	0.82[EUR][1000 genomes]
rs2730810	0.83[EUR][1000 genomes]
rs2730811	0.82[EUR][1000 genomes]
rs2730814	0.88[CEU][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2730817	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2730818	0.81[EUR][1000 genomes]
rs2730819	0.81[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2730820	0.82[EUR][1000 genomes]
rs2730821	0.82[EUR][1000 genomes]
rs2730822	0.82[EUR][1000 genomes]
rs2730824	0.86[EUR][1000 genomes]
rs2730827	0.88[EUR][1000 genomes]
rs2730828	0.82[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2730829	0.82[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2730830	0.81[CHB][hapmap];0.82[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2733269	0.83[MEX][hapmap]
rs2733274	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2733275	0.88[EUR][1000 genomes]
rs2733276	0.86[EUR][1000 genomes]
rs2733278	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs2733280	0.88[EUR][1000 genomes]
rs2733282	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs2733284	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2733285	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2733287	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2733289	0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs2733290	0.83[EUR][1000 genomes]
rs2733291	0.80[EUR][1000 genomes]
rs2733292	0.81[EUR][1000 genomes]
rs2733293	0.82[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs2733297	0.82[EUR][1000 genomes]
rs2733298	0.82[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs2733299	0.85[EUR][1000 genomes]
rs285556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs285557	0.87[ASN][1000 genomes]
rs285560	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs285590	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs285592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs285593	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs285595	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957590	0.82[EUR][1000 genomes]
rs437178	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4584644	0.82[MEX][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs4768354	0.83[EUR][1000 genomes]
rs7298808	0.82[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs7954518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs897973	0.82[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs981012	0.82[EUR][1000 genomes]
rs981014	0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs989904	0.80[EUR][1000 genomes]
rs996356	0.82[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]

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	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
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs285575	PDZRN4	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41916000-41927400	Weak transcription	Aorta	Aorta
2	chr12:41916200-41922000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:41916400-41924600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41916400-41925200	Weak transcription	Brain Anterior Caudate	brain
5	chr12:41921000-41924600	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:41921200-41922400	Enhancers	HSMMtube	muscle
7	chr12:41921400-41921800	Enhancers	Placenta	Placenta
8	chr12:41921400-41922000	Enhancers	HSMM	muscle
9	chr12:41921400-41922400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:41921600-41921800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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