Variant report

Variant	rs2283037
Chromosome Location	chr7:106744913-106744914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:106741436..106746909-chr7:106747521..106753328,9	K562	blood:
2	chr7:106744290..106747255-chr7:106747787..106750851,4	K562	blood:
3	chr7:106743520..106747466-chr7:106753735..106757334,5	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10281856	0.81[CHD][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap]
rs10953528	0.89[ASN][1000 genomes]
rs11760261	0.83[JPT][hapmap]
rs12667954	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12669339	0.89[ASN][1000 genomes]
rs12674011	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705402	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12705403	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1860803	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs2237652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237656	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237657	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2302453	0.86[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2395836	0.83[MKK][hapmap]
rs257384	0.83[MKK][hapmap]
rs3735613	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];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801969	0.80[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs62483580	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483581	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466156	0.81[CHD][hapmap]
rs6466157	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466158	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6946733	0.91[MKK][hapmap]
rs6952920	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6969719	0.81[JPT][hapmap]
rs717099	0.82[CHD][hapmap];0.83[JPT][hapmap]
rs741008	0.80[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7790497	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7809330	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs917760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9648946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[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	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv608072	chr7:106718347-106753248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2283037	DLD	cis	parietal	SCAN
rs2283037	PSMC2	cis	cerebellum	SCAN
rs2283037	MLL5	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106732000-106746000	Weak transcription	Right Atrium	heart
2	chr7:106740400-106746000	Weak transcription	Spleen	Spleen
3	chr7:106741600-106747400	Enhancers	Placenta	Placenta
4	chr7:106742000-106747200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:106742400-106746000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:106743800-106747200	Enhancers	Adipose Nuclei	Adipose
7	chr7:106744200-106745200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:106744200-106746000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:106744200-106746000	Weak transcription	Left Ventricle	heart
10	chr7:106744200-106746000	Weak transcription	Lung	lung
11	chr7:106744200-106746400	Weak transcription	Fetal Brain Female	brain
12	chr7:106744200-106755800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:106744400-106745200	Weak transcription	HUVEC	blood vessel
14	chr7:106744400-106746600	Enhancers	Fetal Heart	heart
15	chr7:106744600-106745000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:106744600-106745400	Weak transcription	K562	blood
17	chr7:106744800-106745400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:106744800-106745800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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