Variant report

Variant	rs288140
Chromosome Location	chr5:107398866-107398867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs158171	0.82[CHD][hapmap];0.81[MEX][hapmap]
rs158174	0.82[CHD][hapmap]
rs158177	0.91[CHD][hapmap];0.81[MEX][hapmap]
rs158185	1.00[CHD][hapmap];0.80[MEX][hapmap]
rs158189	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs169640	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176384	0.89[EUR][1000 genomes]
rs192617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs286748	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286755	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286757	0.95[EUR][1000 genomes]
rs286783	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286786	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286788	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286790	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286810	0.91[CHD][hapmap]
rs286811	0.91[CHD][hapmap];0.92[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs286812	0.91[CHD][hapmap];0.84[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs286816	0.87[CEU][hapmap]
rs286820	1.00[CHD][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs288130	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288148	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs288150	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288174	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs288176	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs288182	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs288186	0.82[JPT][hapmap]
rs289232	0.82[YRI][hapmap]
rs289234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909880	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2909882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966828	0.82[CHD][hapmap]
rs34386	0.82[CHD][hapmap];0.81[MEX][hapmap]
rs34387	0.82[CHD][hapmap]
rs34412	1.00[CHB][hapmap]
rs34416	0.86[EUR][1000 genomes]
rs34417	0.86[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs34418	0.92[CHD][hapmap];0.92[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs34430	0.82[EUR][1000 genomes]
rs40062	0.91[CHD][hapmap];0.92[GIH][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs40065	0.82[CHD][hapmap]
rs40066	0.82[CHD][hapmap]
rs40072	0.82[EUR][1000 genomes]
rs455394	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957551	0.82[CHD][hapmap]
rs502790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706429	0.82[CHD][hapmap]

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	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1029650	chr5:107370079-107435314	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs288140	NSDHL	trans	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107390600-107401600	Weak transcription	Left Ventricle	heart
3	chr5:107395400-107400000	Weak transcription	Psoas Muscle	Psoas
4	chr5:107396800-107409400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:107397800-107399800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:107398600-107399200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:107398600-107399200	Enhancers	Fetal Lung	lung
8	chr5:107398800-107399200	Enhancers	HUES6 Cell Line	embryonic stem cell

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